GTR Home > Laboratories > PreventionGenetics

PreventionGenetics

GTR Lab ID: 239772, Last updated:2017-04-18

Personnel

Conditions and tests

  • 21-hydroxylase deficiency1 test
  • 22q13.3 deletion syndrome1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
  • 3-Methylglutaconic aciduria2 tests
  • 3-Methylglutaconic aciduria type 23 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency4 tests
  • 46,XX sex reversal, type 15 tests
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
  • 46,XY sex reversal, type 11 test
  • 46,XY sex reversal, type 21 test
  • 46,XY sex reversal, type 32 tests
  • 46,XY sex reversal, type 54 tests
  • 46,XY sex reversal, type 64 tests
  • 46,XY sex reversal, type 75 tests
  • 6-pyruvoyl-tetrahydropterin synthase deficiency2 tests
  • Aarskog syndrome2 tests
  • ABCD syndrome1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB3 tests
  • Achondrogenesis, type II3 tests
  • Achondroplasia4 tests
  • Achromatopsia 24 tests
  • Achromatopsia 32 tests
  • Achromatopsia 44 tests
  • Achromatopsia 61 test
  • Acquired hemoglobin H disease1 test
  • Acrocallosal syndrome, Schinzel type1 test
  • Acrocephalosyndactyly type I4 tests
  • Acrodysostosis1 test
  • Acromesomelic dysplasia Hunter Thompson type1 test
  • Acth-independent macronodular adrenal hyperplasia 21 test
  • Acute intermittent porphyria3 tests
  • Acute myeloid leukemia4 tests
  • Acute neuronopathic Gaucher's disease1 test
  • Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
  • Adams-Oliver syndrome 21 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenylosuccinate lyase deficiency3 tests
  • Adolescent nephronophthisis3 tests
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete4 tests
  • Adrenoleukodystrophy3 tests
  • Adult hypophosphatasia4 tests
  • Adult junctional epidermolysis bullosa6 tests
  • Adult neuronal ceroid lipofuscinosis4 tests
  • Adult onset ataxia with oculomotor apraxia4 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant1 test
  • ADULT syndrome1 test
  • Afibrinogenemia, congenital4 tests
  • Age-related macular degeneration 21 test
  • Age-related macular degeneration 34 tests
  • Age-related macular degeneration 61 test
  • Aicardi Goutieres syndrome 11 test
  • Aicardi Goutieres syndrome 22 tests
  • Aicardi Goutieres syndrome 32 tests
  • Aicardi Goutieres syndrome 42 tests
  • Aicardi Goutieres syndrome 52 tests
  • Aicardi-goutieres syndrome 61 test
  • Aicardi-goutieres syndrome 72 tests
  • Alagille syndrome 14 tests
  • Alagille syndrome 24 tests
  • Alazami syndrome1 test
  • Albinism, ocular, with sensorineural deafness3 tests
  • Albinism, oculocutaneous, type VII2 tests
  • Alexander's disease1 test
  • Alkaptonuria1 test
  • Allan-Herndon-Dudley syndrome5 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alpha-B crystallinopathy4 tests
  • Alport syndrome4 tests
  • Alport syndrome, autosomal dominant3 tests
  • Alport syndrome, autosomal recessive4 tests
  • Alport syndrome, X-linked recessive3 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 11 test
  • Alzheimer disease, type 32 tests
  • Alzheimer disease, type 43 tests
  • Alzheimer's disease4 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local2 tests
  • Amelogenesis imperfecta, hypocalcification type2 tests
  • Amelogenesis imperfecta, hypomaturation type IIA42 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA12 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA22 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA32 tests
  • Amelogenesis imperfecta, type 1E2 tests
  • Amelogenesis imperfecta, type IC2 tests
  • Amelogenesis imperfecta, type IV2 tests
  • Aminoacylase 1 deficiency3 tests
  • Amish infantile epilepsy syndrome3 tests
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis 16, juvenile1 test
  • Amyotrophic lateral sclerosis 172 tests
  • Amyotrophic lateral sclerosis 182 tests
  • Amyotrophic lateral sclerosis 203 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 14 tests
  • Amyotrophic lateral sclerosis type 13 tests
  • Amyotrophic lateral sclerosis type 104 tests
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 21 test
  • Amyotrophic lateral sclerosis type 41 test
  • Amyotrophic lateral sclerosis type 64 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Anauxetic dysplasia1 test
  • Andermann syndrome2 tests
  • Andersen Tawil syndrome4 tests
  • Androgen resistance syndrome5 tests
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome3 tests
  • Aniridia 13 tests
  • Aniridia, cerebellar ataxia, and mental retardation2 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Anophthalmos with limb anomalies1 test
  • Anterior segment mesenchymal dysgenesis4 tests
  • Anti-plasmin deficiency, congenital3 tests
  • Antithrombin III deficiency1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis5 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis4 tests
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aphakia, congenital primary2 tests
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency3 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency3 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 83 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 94 tests
  • Arrhythmogenic right ventricular dysplasia, familial 13 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 24 tests
  • Arterial calcification of infancy2 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis multiplex congenita distal type 13 tests
  • Arthrogryposis renal dysfunction cholestasis syndrome2 tests
  • Arthrogryposis, distal, type 5d4 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Arts syndrome2 tests
  • Aspartylglycosaminuria1 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Ataxia, spastic, 2, autosomal recessive1 test
  • Ataxia, spastic, 4, autosomal recessive2 tests
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-telangiectasia syndrome4 tests
  • Ataxia-telangiectasia-like disorder 12 tests
  • Atelosteogenesis type 11 test
  • Atelosteogenesis type 23 tests
  • Atelosteogenesis type 31 test
  • Athabaskan brainstem dysgenesis1 test
  • ATR-X syndrome6 tests
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 113 tests
  • Atrial fibrillation, familial, 123 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 143 tests
  • ATRIAL FIBRILLATION, FAMILIAL, 181 test
  • Atrial fibrillation, familial, 33 tests
  • Atrial fibrillation, familial, 42 tests
  • Atrial fibrillation, familial, 63 tests
  • Atrial fibrillation, familial, 73 tests
  • Atrial fibrillation, familial, 92 tests
  • Atrial myxoma, familial1 test
  • Atrial septal defect 21 test
  • Atrial septal defect 31 test
  • Atrial septal defect 51 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrioventricular septal defect 41 test
  • Atrophia bulborum hereditaria2 tests
  • Autism spectrum disorders1 test
  • Autism, susceptibility to, X-linked 21 test
  • Autism, susceptibility to, X-linked 41 test
  • Autism, susceptibility to, X-linked 51 test
  • Autoimmune lymphoproliferative syndrome1 test
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant hypohidrotic ectodermal dysplasia2 tests
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant optic atrophy plus syndrome2 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 42 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 52 tests
  • Autosomal recessive centronuclear myopathy4 tests
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 102 tests
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B2 tests
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B1 test
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive cutis laxa type 3B1 test
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome2 tests
  • Autosomal recessive hypophosphatemic bone disease3 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Avascular necrosis of the head of femur2 tests
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 13 tests
  • Axenfeld-Rieger syndrome type 33 tests
  • Ayme-gripp syndrome1 test
  • Baller-Gerold syndrome2 tests
  • Bamforth syndrome2 tests
  • Bannayan-Riley-Ruvalcaba syndrome4 tests
  • Baraitser-Winter Syndrome 21 test
  • Barakat syndrome3 tests
  • Bardet-Biedl syndrome12 tests
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 106 tests
  • Bardet-Biedl syndrome 115 tests
  • Bardet-Biedl syndrome 126 tests
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 141 test
  • Bardet-Biedl syndrome 152 tests
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 172 tests
  • Bardet-Biedl syndrome 182 tests
  • Bardet-Biedl syndrome 192 tests
  • Bardet-Biedl syndrome 26 tests
  • Bardet-Biedl syndrome 31 test
  • Bardet-Biedl syndrome 46 tests
  • Bardet-Biedl syndrome 56 tests
  • Bardet-Biedl syndrome 61 test
  • Bardet-Biedl syndrome 76 tests
  • Bardet-Biedl syndrome 85 tests
  • Bardet-Biedl syndrome 96 tests
  • Bartter syndrome type 42 tests
  • Bartter syndrome, type 1, antenatal2 tests
  • Bartter syndrome, type 2, antenatal2 tests
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia disease, biotin-responsive3 tests
  • Becker muscular dystrophy3 tests
  • Beckwith-Wiedemann syndrome1 test
  • Benign familial hematuria1 test
  • Benign familial neonatal seizures 12 tests
  • Benign familial neonatal seizures 23 tests
  • Benign familial neonatal-infantile seizures1 test
  • Benign hereditary chorea1 test
  • Benign recurrent intrahepatic cholestasis 22 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bent bone dysplasia syndrome3 tests
  • Bernard Soulier syndrome8 tests
  • Bernard-Soulier syndrome, type A2, autosomal dominant4 tests
  • Bestrophinopathy, autosomal recessive3 tests
  • beta Thalassemia1 test
  • Beta-D-mannosidosis1 test
  • Bethlem myopathy 16 tests
  • Bethlem myopathy 24 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bile acid synthesis defect, congenital, 12 tests
  • Bile acid synthesis defect, congenital, 22 tests
  • Bile acid synthesis defect, congenital, 52 tests
  • Biotinidase deficiency1 test
  • Blau syndrome2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus5 tests
  • Bloom syndrome4 tests
  • Body mass index quantitative trait locus 41 test
  • Bone marrow failure syndrome 11 test
  • Bone mineral density quantitative trait locus 182 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy6 tests
  • Brachydactyly type A21 test
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly with hypertension1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Brain small vessel disease with hemorrhage2 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency3 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome3 tests
  • Branchiootic syndrome 33 tests
  • Branchiootorenal syndrome 23 tests
  • Breast-ovarian cancer, familial 14 tests
  • Breast-ovarian cancer, familial 24 tests
  • Breast-ovarian cancer, familial 32 tests
  • Breast-ovarian cancer, familial 43 tests
  • Brittle cornea syndrome 21 test
  • Brody myopathy1 test
  • Brown-Vialetto-Van Laere syndrome 11 test
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Bruck syndrome 23 tests
  • Brugada syndrome1 test
  • Brugada syndrome 13 tests
  • Brugada syndrome 23 tests
  • Brugada syndrome 33 tests
  • Brugada syndrome 44 tests
  • Brugada syndrome 53 tests
  • Brugada syndrome 63 tests
  • Brugada syndrome 73 tests
  • Brugada syndrome 83 tests
  • Brugada syndrome 93 tests
  • Bull's eye macular dystrophy1 test
  • Bullous ichthyosiform erythroderma1 test
  • Café-au-lait macules with pulmonary stenosis1 test
  • Calcium oxalate urolithiasis1 test
  • Camptodactyly, tall stature, and hearing loss syndrome4 tests
  • Camptomelic dysplasia5 tests
  • Camptosynpolydactyly, complex1 test
  • Carbohydrate-deficient glycoprotein syndrome type I2 tests
  • Carcinoid tumor of intestine3 tests
  • Carcinoma of pancreas1 test
  • Cardiac arrhythmia, ankyrin B-related3 tests
  • Cardiac valvular dysplasia, X-linked3 tests
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 32 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42 tests
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 34 tests
  • Cardiofaciocutaneous syndrome 44 tests
  • Cardiomyopathy dilated with woolly hair and keratoderma1 test
  • Carney complex variant1 test
  • Carney complex, type 11 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase I deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile1 test
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED1 test
  • Cataract 11 test
  • Cataract 13 with adult i phenotype1 test
  • Cataract 15, multiple types1 test
  • Cataract 16, multiple types1 test
  • Cataract 19, multiple types1 test
  • Cataract 20, multiple types1 test
  • Cataract 233 tests
  • Cataract 3, multiple types2 tests
  • Cataract 301 test
  • Cataract 39, multiple types2 tests
  • Cataract 41 test
  • Cataract 402 tests
  • Cataract 411 test
  • Cataract 6, multiple types1 test
  • Cataract and cardiomyopathy3 tests
  • Cataract, autosomal dominant2 tests
  • Cataract, autosomal dominant, multiple types 11 test
  • Cataract, autosomal recessive congenital 21 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, autosomal recessive congenital 52 tests
  • Cataract, congenital nuclear, autosomal recessive 22 tests
  • Cataract, congenital nuclear, autosomal recessive 32 tests
  • Cataract, congenital zonular, with sutural opacities2 tests
  • Cataract, coppock-like2 tests
  • Cataract, cortical, juvenile-onset2 tests
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cataract, microphthalmia and nystagmus1 test
  • Cataract, posterior polar, 31 test
  • Cataract, posterior polar, 42 tests
  • Cataract, pulverulent, juvenile-onset2 tests
  • Cataract, zonular1 test
  • Catecholaminergic polymorphic ventricular tachycardia3 tests
  • CATSPER-Related Male Infertility2 tests
  • Central core disease7 tests
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia3 tests
  • Cerebellar atrophy, visual impairment, and psychomotor retardation4 tests
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformations 23 tests
  • Cerebral cavernous malformations 32 tests
  • Cerebral folate deficiency4 tests
  • Cerebral palsy, spastic quadriplegic, 12 tests
  • Cerebral palsy, spastic quadriplegic, 22 tests
  • Cerebro-oculo-facio-skeletal syndrome1 test
  • Cerebroretinal microangiopathy with calcifications and cysts2 tests
  • Ceroid lipofuscinosis neuronal 14 tests
  • Ceroid lipofuscinosis neuronal 104 tests
  • Ceroid lipofuscinosis neuronal 24 tests
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant2 tests
  • Ceroid lipofuscinosis neuronal 54 tests
  • Ceroid lipofuscinosis neuronal 64 tests
  • Ceroid lipofuscinosis neuronal 74 tests
  • Ceroid lipofuscinosis neuronal 84 tests
  • Ceroid lipofuscinosis, neuronal, 112 tests
  • Ceroid lipofuscinosis, neuronal, 134 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant4 tests
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease and deafness4 tests
  • Charcot-Marie-Tooth disease dominant intermediate 34 tests
  • Charcot-Marie-Tooth disease type 2B14 tests
  • Charcot-Marie-Tooth disease type 2B23 tests
  • Charcot-Marie-Tooth disease type 2C5 tests
  • Charcot-Marie-Tooth disease type 2D5 tests
  • Charcot-Marie-Tooth disease type 2E5 tests
  • Charcot-Marie-Tooth disease type 2F5 tests
  • Charcot-Marie-Tooth disease type 2I5 tests
  • Charcot-Marie-Tooth disease type 2J5 tests
  • Charcot-Marie-Tooth disease type 2K4 tests
  • Charcot-Marie-Tooth disease type 2P3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2b4 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O5 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2R3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2S3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2T1 test
  • Charcot-Marie-Tooth disease, axonal, type 2u4 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b5 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f5 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4f4 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C5 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E5 tests
  • Charcot-Marie-Tooth disease, dominant intermediate F4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B5 tests
  • Charcot-Marie-Tooth disease, recessive intermediate c4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d5 tests
  • Charcot-Marie-Tooth disease, type 1C4 tests
  • Charcot-Marie-Tooth disease, type 21 test
  • Charcot-Marie-Tooth disease, type 2A26 tests
  • Charcot-Marie-Tooth disease, type 2L5 tests
  • Charcot-Marie-Tooth disease, type 2N3 tests
  • Charcot-Marie-Tooth disease, type 4A4 tests
  • Charcot-Marie-Tooth disease, type 4B14 tests
  • Charcot-Marie-Tooth disease, type 4B24 tests
  • Charcot-Marie-Tooth disease, type 4B34 tests
  • Charcot-Marie-Tooth disease, type 4C4 tests
  • Charcot-Marie-Tooth disease, type 4D5 tests
  • Charcot-Marie-Tooth disease, type 4H4 tests
  • Charcot-Marie-Tooth disease, type 4J5 tests
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, type IA4 tests
  • Charcot-Marie-Tooth disease, X-linked dominant, 63 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 54 tests
  • CHARGE association3 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia4 tests
  • Cholestanol storage disease1 test
  • Cholestasis, benign recurrent intrahepatic 12 tests
  • Cholesterol monooxygenase (side-chain cleaving) deficiency4 tests
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 1, X-linked recessive1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondroectodermal dysplasia4 tests
  • Chops syndrome2 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress2 tests
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia5 tests
  • Christianson syndrome5 tests
  • Chromosome 9q deletion syndrome1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 22 tests
  • Chronic granulomatous disease, X-linked2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chudley-McCullough syndrome2 tests
  • Chédiak-Higashi syndrome2 tests
  • Ciliary dyskinesia, primary, 105 tests
  • Ciliary dyskinesia, primary, 114 tests
  • Ciliary dyskinesia, primary, 124 tests
  • Ciliary dyskinesia, primary, 135 tests
  • Ciliary dyskinesia, primary, 145 tests
  • Ciliary dyskinesia, primary, 155 tests
  • Ciliary dyskinesia, primary, 165 tests
  • Ciliary dyskinesia, primary, 175 tests
  • Ciliary dyskinesia, primary, 185 tests
  • Ciliary dyskinesia, primary, 195 tests
  • Ciliary dyskinesia, primary, 25 tests
  • Ciliary dyskinesia, primary, 205 tests
  • Ciliary dyskinesia, primary, 213 tests
  • Ciliary dyskinesia, primary, 225 tests
  • Ciliary dyskinesia, primary, 265 tests
  • Ciliary dyskinesia, primary, 274 tests
  • Ciliary dyskinesia, primary, 285 tests
  • Ciliary dyskinesia, primary, 294 tests
  • Ciliary dyskinesia, primary, 35 tests
  • Ciliary dyskinesia, primary, 304 tests
  • Ciliary dyskinesia, primary, 65 tests
  • Ciliary dyskinesia, primary, 75 tests
  • Ciliary dyskinesia, primary, 95 tests
  • Citrullinemia type I3 tests
  • Citrullinemia type II4 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome2 tests
  • Cleidocranial dysostosis1 test
  • COACH syndrome1 test
  • Cockayne syndrome B2 tests
  • Cockayne syndrome type A2 tests
  • Coenzyme Q10 deficiency, primary1 test
  • Coenzyme Q10 deficiency, primary 12 tests
  • Coenzyme Q10 deficiency, primary, 21 test
  • Coenzyme Q10 deficiency, primary, 32 tests
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coenzyme Q10 deficiency, primary, 51 test
  • Coenzyme Q10 deficiency, primary, 63 tests
  • Coenzyme Q10 deficiency, primary, 71 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 51 test
  • Cohen syndrome3 tests
  • Cole-Carpenter syndrome 22 tests
  • Collagen VI-related myopathy2 tests
  • Coloboma of optic disc2 tests
  • Colorectal cancer 101 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined deficiency of factor V and factor VIII, 13 tests
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined malonic and methylmalonic aciduria3 tests
  • Combined oxidative phosphorylation deficiency 143 tests
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 31 test
  • Combined oxidative phosphorylation deficiency 61 test
  • Combined oxidative phosphorylation deficiency 72 tests
  • Combined oxidative phosphorylation deficiency 91 test
  • Common variable immunodeficiency 21 test
  • Cone dystrophy 32 tests
  • Cone dystrophy 43 tests
  • Cone-rod dystrophy 102 tests
  • Cone-rod dystrophy 112 tests
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 136 tests
  • Cone-rod dystrophy 155 tests
  • Cone-rod dystrophy 165 tests
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 34 tests
  • Cone-rod dystrophy 55 tests
  • Cone-rod dystrophy 65 tests
  • Cone-rod dystrophy 72 tests
  • Cone-rod dystrophy 92 tests
  • Cone-rod dystrophy amelogenesis imperfecta2 tests
  • Cone-rod dystrophy X-linked 34 tests
  • Cone-rod dystrophy, X-linked 12 tests
  • Congenital adrenal hypoplasia, X-linked5 tests
  • Congenital amegakaryocytic thrombocytopenia4 tests
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to3 tests
  • Congenital bilateral absence of the vas deferens4 tests
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy5 tests
  • Congenital cataracts, hearing loss, and neurodegeneration1 test
  • Congenital central hypoventilation10 tests
  • Congenital contractural arachnodactyly3 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay2 tests
  • Congenital cystic disease of liver4 tests
  • Congenital defect of folate absorption2 tests
  • Congenital disorder of deglycosylation1 test
  • Congenital disorder of glycosylation type 1B2 tests
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1D2 tests
  • Congenital disorder of glycosylation type 1E5 tests
  • Congenital disorder of glycosylation type 1F2 tests
  • Congenital disorder of glycosylation type 1G2 tests
  • Congenital disorder of glycosylation type 1H2 tests
  • Congenital disorder of glycosylation type 1I3 tests
  • Congenital disorder of glycosylation type 1O4 tests
  • Congenital disorder of glycosylation type 1t1 test
  • Congenital disorder of glycosylation type 1u3 tests
  • Congenital disorder of glycosylation type 2C1 test
  • Congenital disorder of glycosylation type 2J1 test
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm2 tests
  • Congenital dyserythropoietic anemia, type I2 tests
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital dyserythropoietic anemia, type IV2 tests
  • Congenital erythropoietic porphyria3 tests
  • Congenital generalized lipodystrophy type 12 tests
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital heart disease3 tests
  • Congenital hyperammonemia, type I3 tests
  • Congenital hypomyelinating neuropathy5 tests
  • Congenital muscular dystrophy, LMNA-related4 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A53 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A24 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A63 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A76 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B13 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B23 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B33 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
  • Congenital muscular hypertrophy-cerebral syndrome4 tests
  • Congenital myasthenic syndrome 133 tests
  • Congenital myasthenic syndrome 1B, fast-channel6 tests
  • Congenital myasthenic syndrome with tubular aggregates 13 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive2 tests
  • Congenital myopathy1 test
  • Congenital myopathy with fiber type disproportion7 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form2 tests
  • Congenital ocular coloboma2 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital stationary night blindness, autosomal dominant 13 tests
  • Congenital stationary night blindness, autosomal dominant 23 tests
  • Congenital stationary night blindness, autosomal dominant 32 tests
  • Congenital stationary night blindness, type 1A3 tests
  • Congenital stationary night blindness, type 1B2 tests
  • Congenital stationary night blindness, type 1C2 tests
  • Congenital stationary night blindness, type 1D4 tests
  • Congenital stationary night blindness, type 1E2 tests
  • Congenital stationary night blindness, type 1F2 tests
  • Congenital stationary night blindness, type 2A4 tests
  • Congenital stationary night blindness, type 2B5 tests
  • Congenital Stromal Corneal Dystrophy1 test
  • Conotruncal heart malformations4 tests
  • Corneal dystrophy and perceptive deafness1 test
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, Fuchs endothelial, 81 test
  • Corneal dystrophy, posterior polymorphous, 21 test
  • Corneal endothelial dystrophy type 22 tests
  • Corneal epithelial dystrophy2 tests
  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2 tests
  • Corneal opacification with other ocular anomalies1 test
  • Cornelia de Lange syndrome 14 tests
  • Cornelia de Lange syndrome 33 tests
  • Cornelia de Lange syndrome 43 tests
  • Cornelia de Lange syndrome 54 tests
  • Corpus callosum, partial agenesis of, X-linked1 test
  • Cortical dysplasia, complex, with other brain malformations 12 tests
  • Cortical dysplasia-focal epilepsy syndrome4 tests
  • Costello syndrome4 tests
  • Cowchock syndrome3 tests
  • Cowden syndrome4 tests
  • Cowden syndrome 22 tests
  • Cowden syndrome 31 test
  • Cowden syndrome 51 test
  • Coxa plana2 tests
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 21 test
  • Cranioectodermal dysplasia 41 test
  • Craniofacial deafness hand syndrome1 test
  • Craniofrontonasal dysplasia1 test
  • Craniosynostosis 13 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 33 tests
  • Craniosynostosis and dental anomalies1 test
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome3 tests
  • Crouzon syndrome with acanthosis nigricans3 tests
  • Cryptophthalmos syndrome2 tests
  • Curry-Hall syndrome1 test
  • Cushing's symphalangism1 test
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 32 tests
  • Cutaneous malignant melanoma 81 test
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
  • Cutis laxa, autosomal dominant1 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, X-linked2 tests
  • Cutis laxa-corneal clouding-oligophrenia syndrome1 test
  • Cyclical neutropenia2 tests
  • Cystathioninuria1 test
  • Cystic fibrosis4 tests
  • Cystinosis, ocular nonnephropathic2 tests
  • Cystinuria5 tests
  • Cytochrome-c oxidase deficiency9 tests
  • Czech dysplasia metatarsal type2 tests
  • Danon disease5 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
  • Deafness, autosomal dominant 12 tests
  • Deafness, autosomal dominant 102 tests
  • Deafness, autosomal dominant 122 tests
  • Deafness, autosomal dominant 132 tests
  • Deafness, autosomal dominant 152 tests
  • Deafness, autosomal dominant 201 test
  • Deafness, autosomal dominant 222 tests
  • Deafness, autosomal dominant 252 tests
  • Deafness, autosomal dominant 282 tests
  • Deafness, autosomal dominant 2b2 tests
  • Deafness, autosomal dominant 362 tests
  • Deafness, autosomal dominant 3a2 tests
  • Deafness, autosomal dominant 3b2 tests
  • Deafness, autosomal dominant 42 tests
  • Deafness, autosomal dominant 402 tests
  • Deafness, autosomal dominant 442 tests
  • Deafness, autosomal dominant 4b2 tests
  • Deafness, autosomal dominant 511 test
  • Deafness, autosomal dominant 642 tests
  • Deafness, autosomal dominant 691 test
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal dominant nonsyndromic sensorineural 174 tests
  • Deafness, autosomal recessive 152 tests
  • Deafness, autosomal recessive 1A4 tests
  • Deafness, autosomal recessive 1b2 tests
  • Deafness, autosomal recessive 212 tests
  • Deafness, autosomal recessive 222 tests
  • Deafness, autosomal recessive 231 test
  • Deafness, autosomal recessive 242 tests
  • Deafness, autosomal recessive 252 tests
  • Deafness, autosomal recessive 282 tests
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 352 tests
  • Deafness, autosomal recessive 372 tests
  • Deafness, autosomal recessive 392 tests
  • Deafness, autosomal recessive 422 tests
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 492 tests
  • Deafness, autosomal recessive 531 test
  • Deafness, autosomal recessive 592 tests
  • Deafness, autosomal recessive 62 tests
  • Deafness, autosomal recessive 612 tests
  • Deafness, autosomal recessive 632 tests
  • Deafness, autosomal recessive 672 tests
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 742 tests
  • Deafness, autosomal recessive 772 tests
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 82 tests
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 912 tests
  • Deafness, X-linked 12 tests
  • Deafness, X-linked 21 test
  • Deafness, X-linked 42 tests
  • Deafness, X-linked 51 test
  • Deafness, X-linked 63 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of ferroxidase2 tests
  • Deficiency of galactokinase2 tests
  • Deficiency of guanidinoacetate methyltransferase3 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of malonyl-CoA decarboxylase3 tests
  • Deficiency of steroid 17-alpha-monooxygenase4 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase5 tests
  • Deficiency of xanthine oxidase2 tests
  • Dehydrated hereditary stomatocytosis 21 test
  • Dejerine-Sottas disease5 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease 13 tests
  • Dent disease 23 tests
  • Denticles1 test
  • Dentinogenesis imperfecta - Shield's type II1 test
  • Dentinogenesis imperfecta - Shield's type III1 test
  • Dermatopathia pigmentosa reticularis1 test
  • DFNA 2 Nonsyndromic Hearing Loss2 tests
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism2 tests
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia3 tests
  • Diffuse mesangial sclerosis2 tests
  • Digital arthropathy-brachydactyly, familial1 test
  • Digitorenocerebral syndrome3 tests
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A3 tests
  • Dilated cardiomyopathy 1AA3 tests
  • Dilated cardiomyopathy 1BB2 tests
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1DD2 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF2 tests
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1I2 tests
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M2 tests
  • Dilated cardiomyopathy 1N2 tests
  • Dilated cardiomyopathy 1O2 tests
  • Dilated cardiomyopathy 1P2 tests
  • Dilated cardiomyopathy 1R3 tests
  • Dilated cardiomyopathy 1S3 tests
  • Dilated cardiomyopathy 1W3 tests
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z2 tests
  • Dilated cardiomyopathy 2A3 tests
  • Dilated cardiomyopathy 3B1 test
  • Dilution, pigmentary2 tests
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal arthrogryposis type 1B2 tests
  • Distal arthrogryposis type 2B6 tests
  • Distal arthrogryposis type 81 test
  • Distal hereditary motor neuronopathy type 2A3 tests
  • Distal hereditary motor neuronopathy type 2B3 tests
  • Distal hereditary motor neuronopathy type 2C2 tests
  • Distal hereditary motor neuronopathy type 54 tests
  • Distal hereditary motor neuronopathy type 5B3 tests
  • Distal hereditary motor neuronopathy type 7B3 tests
  • Distal myopathy Markesbery-Griggs type3 tests
  • Distal myopathy, Tateyama type1 test
  • Distal spinal muscular atrophy, congenital nonprogressive1 test
  • Distal spinal muscular atrophy, X-linked 33 tests
  • Distichiasis-lymphedema syndrome2 tests
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy5 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
  • Dominant hereditary optic atrophy3 tests
  • Doyne honeycomb retinal dystrophy4 tests
  • Drash syndrome2 tests
  • Duane syndrome type 22 tests
  • Duane-radial ray syndrome2 tests
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy2 tests
  • Dysgnathia complex2 tests
  • Dyskeratosis congenita autosomal dominant2 tests
  • Dyskeratosis congenita autosomal recessive 12 tests
  • Dyskeratosis congenita X-linked3 tests
  • Dyskeratosis congenita, autosomal dominant, 23 tests
  • Dyskeratosis congenita, autosomal dominant, 32 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive, 32 tests
  • Dystonia 11 test
  • Dystonia 101 test
  • Dystonia 3, torsion, X-linked1 test
  • Dystonia 5, Dopa-responsive type2 tests
  • Dystonia 91 test
  • Dystrophic epidermolysis bullosa1 test
  • Early infantile epileptic encephalopathy 104 tests
  • Early infantile epileptic encephalopathy 114 tests
  • Early infantile epileptic encephalopathy 123 tests
  • Early infantile epileptic encephalopathy 133 tests
  • Early infantile epileptic encephalopathy 144 tests
  • Early infantile epileptic encephalopathy 153 tests
  • Early infantile epileptic encephalopathy 163 tests
  • Early infantile epileptic encephalopathy 172 tests
  • Early infantile epileptic encephalopathy 183 tests
  • Early infantile epileptic encephalopathy 26 tests
  • Early infantile epileptic encephalopathy 44 tests
  • Early infantile epileptic encephalopathy 54 tests
  • Early infantile epileptic encephalopathy 74 tests
  • Early infantile epileptic encephalopathy 84 tests
  • Early infantile epileptic encephalopathy 94 tests
  • Early myoclonic encephalopathy4 tests
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant2 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive2 tests
  • Ectodermal dysplasia skin fragility syndrome2 tests
  • Ectodermal dysplasia, 'pure' hair-nail type2 tests
  • Ectodermal dysplasia/short stature syndrome1 test
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated autosomal recessive1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • Edict syndrome1 test
  • Ehlers-Danlos syndrome progeroid type1 test
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form4 tests
  • Ehlers-Danlos syndrome, classic type7 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, procollagen proteinase deficient5 tests
  • Ehlers-Danlos syndrome, progeroid type, 21 test
  • Ehlers-Danlos syndrome, type 34 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Ehlers-Danlos syndrome, type vii, autosomal recessive1 test
  • Ehlers-Danlos-like syndrome due to tenascin-X deficiency2 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 22 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked4 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Enamel-renal syndrome3 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to1 test
  • Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission2 tests
  • Endometrial carcinoma2 tests
  • Endplate acetylcholinesterase deficiency3 tests
  • Enlarged vestibular aqueduct syndrome3 tests
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy3 tests
  • Epidermolysis bullosa herpetiformis, Dowling-Meara3 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia4 tests
  • Epidermolysis bullosa pruriginosa2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with nail dystrophy1 test
  • Epidermolysis bullosa simplex with pyloric atresia3 tests
  • Epidermolysis bullosa simplex, autosomal recessive2 tests
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, Cockayne-Touraine type4 tests
  • Epidermolysis bullosa simplex, Koebner type3 tests
  • Epidermolysis bullosa simplex, Ogna type3 tests
  • Epidermolysis bullosa, lethal acantholytic2 tests
  • Epidermolytic palmoplantar keratoderma3 tests
  • Epilepsy, childhood absence 53 tests
  • Epilepsy, familial focal, with variable foci3 tests
  • EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 22 tests
  • Epilepsy, familial temporal lobe, 72 tests
  • Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, juvenile myoclonic 53 tests
  • Epilepsy, lateral temporal lobe, autosomal dominant3 tests
  • Epilepsy, nocturnal frontal lobe, 52 tests
  • Epilepsy, nocturnal frontal lobe, type 13 tests
  • Epilepsy, nocturnal frontal lobe, type 33 tests
  • Epilepsy, nocturnal frontal lobe, type 42 tests
  • Epilepsy, progressive myoclonic 34 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure4 tests
  • Epilepsy, progressive myoclonic 63 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy, childhood-onset3 tests
  • Epileptic encephalopathy, early infantile, 12 tests
  • Epileptic encephalopathy, early infantile, 243 tests
  • Epileptic encephalopathy, early infantile, 252 tests
  • Epileptic encephalopathy, early infantile, 262 tests
  • Epileptic encephalopathy, early infantile, 323 tests
  • Epileptic encephalopathy, early infantile, 361 test
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness1 test
  • Episodic ataxia type 12 tests
  • Episodic pain syndrome, familial, 22 tests
  • Episodic pain syndrome, familial, 32 tests
  • Epstein syndrome5 tests
  • Erythrocytosis, familial, 21 test
  • Erythrokeratodermia variabilis1 test
  • Erythropoietic protoporphyria3 tests
  • Essential hypertension1 test
  • Essential thrombocythemia1 test
  • Ethylmalonic encephalopathy1 test
  • Exercise-induced hyperinsulinemic hypoglycemia1 test
  • Exudative vitreoretinopathy 11 test
  • Exudative vitreoretinopathy 41 test
  • Exudative vitreoretinopathy 52 tests
  • Exudative vitreoretinopathy 61 test
  • Fabry disease2 tests
  • Facioscapulohumeral muscular dystrophy 24 tests
  • Factor v and factor viii, combined deficiency of, 23 tests
  • Factor V deficiency3 tests
  • Factor VII deficiency3 tests
  • Factor X deficiency3 tests
  • Factor XII deficiency disease2 tests
  • Factor xiii, a subunit, deficiency of3 tests
  • Factor xiii, b subunit, deficiency of3 tests
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial cancer of breast7 tests
  • Familial cold autoinflammatory syndrome 22 tests
  • Familial cold urticaria1 test
  • Familial dysautonomia4 tests
  • Familial erythrocytosis, 11 test
  • Familial expansile osteolysis1 test
  • Familial exudative vitreoretinopathy1 test
  • Familial exudative vitreoretinopathy, X-linked2 tests
  • Familial febrile seizures 84 tests
  • Familial gynecomastia, due to increased aromatase activity4 tests
  • Familial hemiplegic migraine type 12 tests
  • Familial hemiplegic migraine type 22 tests
  • Familial hemiplegic migraine type 31 test
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia2 tests
  • Familial hypertrophic cardiomyopathy 14 tests
  • Familial hypertrophic cardiomyopathy 102 tests
  • Familial hypertrophic cardiomyopathy 112 tests
  • Familial hypertrophic cardiomyopathy 122 tests
  • Familial hypertrophic cardiomyopathy 132 tests
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 22 tests
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 32 tests
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 62 tests
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 82 tests
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypoalphalipoproteinemia1 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoplastic, glomerulocystic kidney6 tests
  • Familial idiopathic hypercalciuria1 test
  • Familial infantile myasthenia3 tests
  • Familial juvenile gout2 tests
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant2 tests
  • Familial medullary thyroid carcinoma2 tests
  • Familial multiple polyposis syndrome4 tests
  • Familial partial lipodystrophy 21 test
  • Familial platelet disorder with associated myeloid malignancy5 tests
  • Familial porphyria cutanea tarda3 tests
  • Familial progressive hyperpigmentation with or without hypopigmentation1 test
  • Familial renal hypouricemia1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial restrictive cardiomyopathy 31 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
  • Fanconi anemia, complementation group A2 tests
  • Fanconi anemia, complementation group B2 tests
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D12 tests
  • Fanconi anemia, complementation group D22 tests
  • Fanconi anemia, complementation group E2 tests
  • Fanconi anemia, complementation group F2 tests
  • Fanconi anemia, complementation group G2 tests
  • Fanconi anemia, complementation group I2 tests
  • Fanconi anemia, complementation group J3 tests
  • Fanconi anemia, complementation group L2 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi anemia, complementation group N3 tests
  • Fanconi anemia, complementation group O3 tests
  • Fanconi anemia, complementation group P2 tests
  • Fanconi anemia, complementation group Q1 test
  • Fanconi anemia, complementation group t1 test
  • Fanconi-Bickel syndrome3 tests
  • Farber's lipogranulomatosis1 test
  • Fechtner syndrome5 tests
  • Fetal hemoglobin quantitative trait locus 61 test
  • FG syndrome1 test
  • FG syndrome 21 test
  • FG syndrome 42 tests
  • Fibrochondrogenesis2 tests
  • Fibrochondrogenesis 21 test
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 22 tests
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
  • Fibrous dysplasia of jaw1 test
  • Fibular hypoplasia and complex brachydactyly1 test
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease1 test
  • Fleck corneal dystrophy1 test
  • Fleck retina, familial benign4 tests
  • Floating-Harbor syndrome3 tests
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 22 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 72 tests
  • Focal segmental glomerulosclerosis 82 tests
  • Focal segmental glomerulosclerosis 91 test
  • Follicle-stimulating hormone deficiency, isolated5 tests
  • Foveal hypoplasia 21 test
  • Foveal hypoplasia and presenile cataract syndrome4 tests
  • Fragile X syndrome3 tests
  • Fragile X tremor/ataxia syndrome1 test
  • Frank Ter Haar syndrome2 tests
  • Frasier syndrome2 tests
  • FRAXE1 test
  • Freeman-Sheldon syndrome3 tests
  • Frontometaphyseal dysplasia1 test
  • Frontonasal dysplasia 11 test
  • Frontotemporal dementia5 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 34 tests
  • Frontotemporal Dementia, Chromosome 3-Linked3 tests
  • Frontotemporal dementia, ubiquitin-positive3 tests
  • Fructose-biphosphatase deficiency2 tests
  • Fukuyama congenital muscular dystrophy4 tests
  • Fumarase deficiency2 tests
  • Galactosylceramide beta-galactosidase deficiency2 tests
  • Galloway-Mowat syndrome2 tests
  • Ganglioside sialidase deficiency1 test
  • Gangliosidosis GM1 type 31 test
  • Gastrointestinal stromal tumor3 tests
  • GATA-1-related thrombocytopenia with dyserythropoiesis5 tests
  • Gaucher disease type 3C1 test
  • Gaucher disease, perinatal lethal2 tests
  • Gaucher's disease, type 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized epilepsy with febrile seizures plus, type 14 tests
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 74 tests
  • Generalized epilepsy with febrile seizures plus, type 92 tests
  • Genitopatellar syndrome4 tests
  • Geroderma osteodysplastica1 test
  • Giant axonal neuropathy3 tests
  • Gilbert's syndrome1 test
  • Glanzmann thrombasthenia6 tests
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary congenital, d2 tests
  • Glaucoma, congenital2 tests
  • Glaucoma, normal tension, susceptibility to1 test
  • Globozoospermia3 tests
  • Glucose-6-phosphate transport defect3 tests
  • GLUT1 deficiency syndrome 13 tests
  • GLUT1 deficiency syndrome 21 test
  • Glutaric aciduria, type 11 test
  • Glutaric aciduria, type 26 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
  • Gluthathione synthetase deficiency1 test
  • Glycine N-methyltransferase deficiency2 tests
  • Glycogen storage disease 0, muscle1 test
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc3 tests
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease of heart, lethal congenital2 tests
  • Glycogen storage disease type 131 test
  • Glycogen storage disease type 1A3 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type IXa13 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II6 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V5 tests
  • Glycogen storage disease, type VI3 tests
  • Glycogen storage disease, type VII3 tests
  • GM1 gangliosidosis type 21 test
  • Gnathodiaphyseal dysplasia1 test
  • Goiter, multinodular 1, with or without sertoli-leydig cell tumors2 tests
  • Goldberg-Shprintzen megacolon syndrome1 test
  • Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance1 test
  • Gonadotropin-independent familial sexual precocity5 tests
  • Gordon's syndrome2 tests
  • Gorlin syndrome1 test
  • Gower's muscular dystrophy3 tests
  • Gracile bone dysplasia2 tests
  • GRACILE syndrome3 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III2 tests
  • Gray platelet syndrome3 tests
  • Grebe syndrome1 test
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome2 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 23 tests
  • Groenouw corneal dystrophy type I2 tests
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate3 tests
  • GTP cyclohydrolase I deficiency1 test
  • Hajdu-Cheney syndrome2 tests
  • Hand foot uterus syndrome1 test
  • Hartsfield syndrome2 tests
  • Hay-Wells syndrome of ectodermal dysplasia1 test
  • Hb SS disease1 test
  • Hecht syndrome1 test
  • Helsmoortel-van der aa syndrome1 test
  • Hemochromatosis type 15 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B2 tests
  • Hemochromatosis type 32 tests
  • Hemochromatosis type 42 tests
  • Hemochromatosis type 51 test
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
  • Hemophagocytic lymphohistiocytosis, familial, 22 tests
  • Hemophagocytic lymphohistiocytosis, familial, 32 tests
  • Hemophagocytic lymphohistiocytosis, familial, 42 tests
  • Hemophagocytic lymphohistiocytosis, familial, 52 tests
  • Hennekam lymphangiectasia-lymphedema syndrome2 tests
  • Hepatic methionine adenosyltransferase deficiency2 tests
  • Hereditary angioedema type 11 test
  • Hereditary breast and ovarian cancer syndrome3 tests
  • Hereditary congenital facial paresis 31 test
  • Hereditary coproporphyria4 tests
  • Hereditary diffuse gastric cancer3 tests
  • Hereditary disease2 tests
  • Hereditary factor I deficiency disease2 tests
  • Hereditary factor IX deficiency disease3 tests
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary factor XI deficiency disease3 tests
  • Hereditary fructosuria5 tests
  • Hereditary hearing loss and deafness2 tests
  • Hereditary hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia type 22 tests
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I4 tests
  • Hereditary mixed polyposis syndrome 21 test
  • Hereditary motor and sensory neuropathy with optic atrophy3 tests
  • Hereditary myopathy with early respiratory failure2 tests
  • Hereditary neutrophilia2 tests
  • Hereditary nonpolyposis colorectal cancer type 46 tests
  • Hereditary nonpolyposis colorectal cancer type 56 tests
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary nonpolyposis colorectal cancer type 84 tests
  • Hereditary pancreatitis7 tests
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sensory and autonomic neuropathy type IC2 tests
  • Hereditary sensory and autonomic neuropathy type IIA2 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC2 tests
  • Hereditary sensory neuropathy type 1D2 tests
  • Hereditary sensory neuropathy type IE3 tests
  • Hereditary sideroblastic anemia1 test
  • Hermansky Pudlak syndrome 24 tests
  • Hermansky-Pudlak syndrome 14 tests
  • Hermansky-Pudlak syndrome 35 tests
  • Hermansky-Pudlak syndrome 44 tests
  • Hermansky-Pudlak syndrome 54 tests
  • Hermansky-Pudlak syndrome 65 tests
  • Hermansky-Pudlak syndrome 74 tests
  • Hermansky-Pudlak syndrome 84 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Heterotaxy, visceral, 2, autosomal2 tests
  • Heterotaxy, visceral, 4, autosomal3 tests
  • Heterotaxy, visceral, 6, autosomal2 tests
  • Heterotaxy, visceral, X-linked3 tests
  • Heterotopia, periventricular, autosomal recessive3 tests
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Hirschsprung disease2 tests
  • Hirschsprung disease 13 tests
  • Hirschsprung disease 24 tests
  • Hirschsprung disease 32 tests
  • Hirschsprung disease 45 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Histiocytic medullary reticulosis4 tests
  • HNSHA due to aldolase A deficiency1 test
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly 112 tests
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 32 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 72 tests
  • Holoprosencephaly 92 tests
  • Holoprosencephaly sequence3 tests
  • Holt-Oram syndrome1 test
  • Homocysteinemia due to MTHFR deficiency3 tests
  • Homocystinuria due to CBS deficiency2 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type2 tests
  • Hoyeraal Hreidarsson syndrome2 tests
  • Huntington's chorea1 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hyaline fibromatosis syndrome1 test
  • Hydrolethalus syndrome 21 test
  • Hyperaldosteronism, familial, type IV2 tests
  • Hyperammonemia, type III3 tests
  • Hypercholanemia, familial1 test
  • Hypercholesterolemia, autosomal dominant, 32 tests
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, autosomal recessive1 test
  • Hyperferritinemia cataract syndrome1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperimmunoglobulin E syndrome2 tests
  • Hyperinsulinemic hypoglycemia familial 32 tests
  • Hyperinsulinemic hypoglycemia, familial, 42 tests
  • Hyperinsulinism-hyperammonemia syndrome3 tests
  • Hyperkalemic Periodic Paralysis Type 13 tests
  • Hyperlipoproteinemia, type I1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 21 test
  • Hyperphenylalaninemia, BH4-deficient, D3 tests
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with mental retardation syndrome 23 tests
  • Hyperprolactinemia2 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hyperthyroidism, familial gestational2 tests
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypertrichotic osteochondrodysplasia1 test
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2 tests
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypobetalipoproteinemia, normotriglyceridemic1 test
  • Hypocalcemia, autosomal dominant 14 tests
  • Hypocalcemia, autosomal dominant 22 tests
  • Hypocalciuric hypercalcemia, familial, type 12 tests
  • Hypocalciuric hypercalcemia, familial, type II2 tests
  • Hypocalciuric hypercalcemia, familial, type III3 tests
  • Hypochondroplasia4 tests
  • Hypoglycemia with deficiency of glycogen synthetase in the liver3 tests
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 16 with or without anosmia4 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia5 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia4 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypokalemic periodic paralysis 11 test
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 2, renal2 tests
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement3 tests
  • Hypomagnesemia 6, renal1 test
  • Hypomyelination and Congenital Cataract2 tests
  • Hypoparathyroidism familial isolated3 tests
  • Hypoparathyroidism retardation dysmorphism syndrome3 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 21 test
  • Hyposegmentation of neutrophil nuclei1 test
  • Hypospadias 2, X-linked4 tests
  • Hypothalamic hypothyroidism2 tests
  • Hypothyroidism, central, and testicular enlargement2 tests
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 52 tests
  • Hypothyroidism, congenital, nongoitrous, 62 tests
  • Hypotonia-cystinuria syndrome1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
  • I cell disease3 tests
  • Ichthyosis bullosa of Siemens2 tests
  • Ichthyosis hystrix, Curth Macklin type2 tests
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis, congenital, autosomal recessive 111 test
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis2 tests
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis2 tests
  • Idiopathic hypercalcemia of infancy1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Immunodeficiency 132 tests
  • Immunodeficiency 141 test
  • Immunodeficiency 301 test
  • Immunodeficiency with hyper IgM type 11 test
  • Immunodeficiency with hyper IgM type 21 test
  • Immunoglobulin A deficiency 21 test
  • Inclusion body myopathy 21 test
  • Inclusion body myopathy 32 tests
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia5 tests
  • Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 22 tests
  • Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 31 test
  • Indifference to pain, congenital, autosomal recessive3 tests
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile convulsions and paroxysmal choreoathetosis, familial1 test
  • Infantile cortical hyperostosis3 tests
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypophosphatasia4 tests
  • Infantile myofibromatosis 12 tests
  • Infantile myofibromatosis 21 test
  • Infantile nephronophthisis4 tests
  • Infantile neuroaxonal dystrophy2 tests
  • Infantile nystagmus, X-linked1 test
  • Infantile Parkinsonism-dystonia1 test
  • Infantile Refsum's disease2 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA3 tests
  • Infertility due to oligospermia1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual disability1 test
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital2 tests
  • Interstitial nephritis, karyomegalic1 test
  • Intestinal pseudoobstruction neuronal chronic idiopathic X-linked1 test
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect2 tests
  • IRAK4 deficiency1 test
  • Irido-corneo-trabecular dysgenesis3 tests
  • Iridogoniodysgenesis type13 tests
  • Iridogoniodysgenesis, dominant type3 tests
  • Ischiopatellar dysplasia1 test
  • Islet cell hyperplasia3 tests
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • IVIC syndrome1 test
  • Jackson-Weiss syndrome4 tests
  • Jarcho-Levin syndrome2 tests
  • Jensen syndrome2 tests
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Johanson-Blizzard syndrome2 tests
  • Joubert syndrome2 tests
  • Joubert syndrome 11 test
  • Joubert syndrome 103 tests
  • Joubert syndrome 12/15, digenic2 tests
  • Joubert syndrome 132 tests
  • Joubert syndrome 143 tests
  • Joubert syndrome 152 tests
  • Joubert syndrome 163 tests
  • Joubert syndrome 173 tests
  • Joubert syndrome 183 tests
  • Joubert syndrome 192 tests
  • Joubert syndrome 23 tests
  • Joubert syndrome 202 tests
  • Joubert syndrome 212 tests
  • Joubert syndrome 222 tests
  • Joubert syndrome 33 tests
  • Joubert syndrome 43 tests
  • Joubert syndrome 56 tests
  • Joubert syndrome 63 tests
  • Joubert syndrome 73 tests
  • Joubert syndrome 83 tests
  • Joubert syndrome 93 tests
  • Junctional epidermolysis bullosa gravis of Herlitz5 tests
  • Juvenile macular degeneration and hypotrichosis2 tests
  • Juvenile nephropathic cystinosis2 tests
  • Juvenile neuronal ceroid lipofuscinosis8 tests
  • Juvenile polyposis syndrome3 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis4 tests
  • Kabuki syndrome 12 tests
  • Kabuki syndrome 22 tests
  • Kallmann syndrome 18 tests
  • Kallmann syndrome 26 tests
  • Kallmann syndrome 35 tests
  • Kallmann syndrome 45 tests
  • Kallmann syndrome 56 tests
  • Kallmann syndrome 65 tests
  • Kartagener syndrome6 tests
  • KBG syndrome2 tests
  • Kenny-Caffey syndrome type 13 tests
  • Kenny-Caffey syndrome type 24 tests
  • Keratitis, hereditary1 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Keratoconus 12 tests
  • Keratoderma palmoplantar deafness1 test
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2 tests
  • Keratosis palmoplantaris striata II1 test
  • Kindler's syndrome2 tests
  • Klein-Waardenberg's syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2 tests
  • Kniest dysplasia3 tests
  • Knobloch syndrome 11 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Kohlschutter's syndrome3 tests
  • Lafora disease4 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome, dominant type2 tests
  • Laryngoonychocutaneous syndrome1 test
  • Late-onset retinal degeneration4 tests
  • Lattice corneal dystrophy type 3A2 tests
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III2 tests
  • Leber congenital amaurosis 14 tests
  • Leber congenital amaurosis 105 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 124 tests
  • Leber congenital amaurosis 136 tests
  • Leber congenital amaurosis 146 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 162 tests
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 46 tests
  • Leber congenital amaurosis 55 tests
  • Leber congenital amaurosis 65 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 92 tests
  • Left ventricular noncompaction 12 tests
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 63 tests
  • Legius syndrome2 tests
  • Leigh syndrome12 tests
  • Leigh syndrome, French Canadian type2 tests
  • Lenz microphthalmia syndrome1 test
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 31 test
  • Leptin deficiency or dysfunction4 tests
  • Leptin receptor deficiency6 tests
  • Leri Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome3 tests
  • Lethal arthrogryposis with anterior horn cell disease4 tests
  • Lethal congenital contracture syndrome 15 tests
  • Lethal congenital contracture syndrome 51 test
  • Lethal multiple pterygium syndrome7 tests
  • Lethal tight skin contracture syndrome2 tests
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukoencephalopathy with vanishing white matter8 tests
  • Levy-Hollister syndrome3 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome 16 tests
  • Li-Fraumeni syndrome 21 test
  • Lig4 syndrome1 test
  • Limb-girdle muscular dystrophy, type 1A5 tests
  • Limb-girdle muscular dystrophy, type 1B5 tests
  • Limb-girdle muscular dystrophy, type 1C4 tests
  • Limb-girdle muscular dystrophy, type 1E6 tests
  • Limb-girdle muscular dystrophy, type 1F4 tests
  • Limb-girdle muscular dystrophy, type 1G3 tests
  • Limb-girdle muscular dystrophy, type 2A4 tests
  • Limb-girdle muscular dystrophy, type 2B4 tests
  • Limb-girdle muscular dystrophy, type 2D4 tests
  • Limb-girdle muscular dystrophy, type 2E4 tests
  • Limb-girdle muscular dystrophy, type 2F4 tests
  • Limb-girdle muscular dystrophy, type 2G5 tests
  • Limb-girdle muscular dystrophy, type 2J7 tests
  • Limb-girdle muscular dystrophy, type 2L4 tests
  • Limb-girdle muscular dystrophy, type 2Q3 tests
  • Limb-girdle muscular dystrophy, type 2S4 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C13 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C23 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C33 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C55 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C93 tests
  • Limb-mammary syndrome1 test
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lissencephaly 11 test
  • Lissencephaly 21 test
  • Lissencephaly 2, X-linked6 tests
  • Lissencephaly 31 test
  • Lissencephaly, X-linked2 tests
  • Liver failure acute infantile1 test
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 33 tests
  • Loeys-Dietz syndrome 43 tests
  • Long QT syndrome 15 tests
  • Long QT syndrome 103 tests
  • Long QT syndrome 113 tests
  • Long QT syndrome 123 tests
  • Long QT syndrome 133 tests
  • Long QT syndrome 143 tests
  • Long QT syndrome 153 tests
  • Long QT syndrome 25 tests
  • Long QT syndrome 35 tests
  • Long QT syndrome 53 tests
  • Long QT syndrome 63 tests
  • Long QT syndrome 93 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lowe syndrome3 tests
  • Lung cancer2 tests
  • Lymphedema, hereditary, IC2 tests
  • Lymphedema, hereditary, III1 test
  • Lymphedema, primary, with myelodysplasia3 tests
  • Lymphoproliferative syndrome 1, X-linked2 tests
  • Lymphoproliferative syndrome 2, X-linked2 tests
  • Lynch syndrome I6 tests
  • Lynch syndrome II6 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency3 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis1 test
  • Macrothrombocytopenia and progressive sensorineural deafness2 tests
  • MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED2 tests
  • Macular corneal dystrophy Type I2 tests
  • Macular degeneration, X-linked atrophic3 tests
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Majeed syndrome2 tests
  • Malignant hyperthermia1 test
  • Malignant hyperthermia susceptibility type 52 tests
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant tumor of prostate1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive3 tests
  • Maple syrup urine disease4 tests
  • Maple syrup urine disease, type 32 tests
  • Marden-Walker syndrome1 test
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome3 tests
  • Marles Greenberg Persaud syndrome3 tests
  • Marshall syndrome2 tests
  • Martsolf syndrome1 test
  • Mast syndrome3 tests
  • Maturity-onset diabetes of the young, type 14 tests
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 102 tests
  • Maturity-onset diabetes of the young, type 112 tests
  • Maturity-onset diabetes of the young, type 33 tests
  • Maturity-onset diabetes of the young, type 42 tests
  • Maturity-onset diabetes of the young, type 62 tests
  • Maturity-onset diabetes of the young, type 72 tests
  • Maturity-onset diabetes of the young, type 92 tests
  • May-Hegglin anomaly6 tests
  • McKusick Kaufman syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome 122 tests
  • Meckel syndrome type 13 tests
  • Meckel syndrome type 23 tests
  • Meckel syndrome type 33 tests
  • Meckel syndrome type 43 tests
  • Meckel syndrome type 53 tests
  • Meckel syndrome type 63 tests
  • Meckel syndrome type 71 test
  • Meckel syndrome type 83 tests
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 93 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Medullary cystic kidney disease 11 test
  • Medullary cystic kidney disease 21 test
  • Medulloblastoma1 test
  • Meesman's corneal dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation2 tests
  • Megaloblastic anemia due to inborn errors of metabolism1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Megalocornea1 test
  • Meier-Gorlin syndrome2 tests
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Melanoma astrocytoma syndrome2 tests
  • Melanoma-pancreatic cancer syndrome3 tests
  • Melnick-Fraser syndrome1 test
  • Melnick-Needles syndrome1 test
  • Meningioma, familial2 tests
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 21, X-linked1 test
  • Mental retardation 3, X-linked4 tests
  • Mental retardation 30, X-linked2 tests
  • Mental retardation 63, X-linked2 tests
  • Mental retardation 9, X-linked1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
  • Mental retardation, autosomal dominant 14 tests
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 141 test
  • Mental retardation, autosomal dominant 151 test
  • Mental retardation, autosomal dominant 161 test
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, autosomal recessive 131 test
  • Mental retardation, autosomal recessive 71 test
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations4 tests
  • Mental retardation, syndromic 14, X-linked2 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked1 test
  • Mental retardation, X-linked 11 test
  • Mental retardation, X-linked 721 test
  • Mental retardation, X-linked 931 test
  • Mental retardation, X-linked 961 test
  • Mental retardation, X-linked 982 tests
  • Mental retardation, X-linked 991 test
  • Mental retardation, X-linked 99, syndromic, female-restricted1 test
  • Mental retardation, X-linked, syndromic 101 test
  • Mental retardation, X-linked, syndromic 321 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mental retardation, X-linked, syndromic, raymond type1 test
  • Mental retardation, X-linked, syndromic, turner type1 test
  • Mental retardation, X-linked, syndromic, wu type1 test
  • Mental retardation-hypotonic facies syndrome X-linked, 14 tests
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy4 tests
  • Mesothelioma, malignant1 test
  • Metachondromatosis1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatrophic dysplasia1 test
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE2 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency2 tests
  • Methylmalonic acidemia with homocystinuria3 tests
  • Methylmalonic acidemia with homocystinuria cblD5 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE2 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE2 tests
  • Methylmalonic aciduria cblA type4 tests
  • Methylmalonic aciduria cblB type2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect3 tests
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Mevalonic aciduria1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation3 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcytic anemia1 test
  • Microdeletion syndromes2 tests
  • Microduplication syndromes2 tests
  • Microphthalmia syndromic 36 tests
  • Microphthalmia syndromic 54 tests
  • Microphthalmia syndromic 62 tests
  • Microphthalmia syndromic 91 test
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated 55 tests
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 81 test
  • Microphthalmia, isolated, with coloboma 31 test
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia, isolated, with coloboma 91 test
  • Microspherophakia1 test
  • Miller Dieker syndrome1 test
  • Miller syndrome3 tests
  • Minicore myopathy with external ophthalmoplegia4 tests
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • Mitochondrial complex I deficiency15 tests
  • Mitochondrial complex II deficiency2 tests
  • Mitochondrial complex III deficiency3 tests
  • Mitochondrial complex III deficiency, nuclear type 22 tests
  • Mitochondrial complex III deficiency, nuclear type 32 tests
  • Mitochondrial complex III deficiency, nuclear type 42 tests
  • Mitochondrial complex III deficiency, nuclear type 52 tests
  • Mitochondrial complex III deficiency, nuclear type 62 tests
  • Mitochondrial complex III deficiency, nuclear type 72 tests
  • Mitochondrial complex III deficiency, nuclear type 82 tests
  • Mitochondrial complex III deficiency, nuclear type 92 tests
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 42 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)2 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)2 tests
  • Mitochondrial DNA depletion syndrome 22 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type1 test
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)3 tests
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)2 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)3 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral2 tests
  • Mitochondrial phosphate carrier deficiency2 tests
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 33 tests
  • Miyoshi myopathy2 tests
  • Mohr-Tranebjaerg syndrome2 tests
  • Molybdenum cofactor deficiency, complementation group C1 test
  • Monoamine oxidase A deficiency1 test
  • Monocarboxylate transporter 1 deficiency2 tests
  • MORM syndrome4 tests
  • Mosaic variegated aneuploidy syndrome3 tests
  • Mosaic variegated aneuploidy syndrome 21 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease 52 tests
  • Mucolipidosis III Gamma1 test
  • Mucopolysaccharidosis type VI1 test
  • Mucopolysaccharidosis type VII3 tests
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S3 tests
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A3 tests
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome2 tests
  • Muir-Torré syndrome2 tests
  • Mullerian aplasia and hyperandrogenism6 tests
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 2a2 tests
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 12 tests
  • Multiple epiphyseal dysplasia 23 tests
  • Multiple epiphyseal dysplasia 33 tests
  • Multiple epiphyseal dysplasia 42 tests
  • Multiple epiphyseal dysplasia 52 tests
  • Multiple epiphyseal dysplasia 62 tests
  • Multiple exostoses type 22 tests
  • Multiple fibrofolliculomas1 test
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Multiple pterygium syndrome Escobar type4 tests
  • Multiple sulfatase deficiency3 tests
  • Multiple synostoses syndrome 21 test
  • Multisystemic smooth muscle dysfunction syndrome2 tests
  • Muscle eye brain disease4 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency3 tests
  • Muscular dystrophy, congenital, megaconial type3 tests
  • Muscular dystrophy, limb-girdle, type 2r3 tests
  • Muscular dystrophy, limb-girdle, type 2W4 tests
  • Muscular dystrophy, limb-girdle, type 2y2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 104 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 114 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 124 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 134 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 142 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 84 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 142 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 123 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 146 tests
  • Mutilating keratoderma1 test
  • Myasthenia, limb-girdle, familial4 tests
  • Myasthenic syndrome, congenital, 151 test
  • Myasthenic syndrome, congenital, 182 tests
  • Myasthenic syndrome, congenital, 191 test
  • Myasthenic syndrome, congenital, 2a, slow-channel1 test
  • Myasthenic syndrome, congenital, 7, presynaptic3 tests
  • Myasthenic syndrome, congenital, 81 test
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency4 tests
  • Myasthenic syndrome, slow-channel congenital6 tests
  • Myelodysplastic syndrome1 test
  • Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
  • MYH-associated polyposis4 tests
  • Myoclonic dystonia1 test
  • Myoclonic epilepsy, familial infantile3 tests
  • Myofibrillar myopathy 14 tests
  • Myofibrillar myopathy, BAG3-related4 tests
  • Myofibrillar myopathy, filamin C-related3 tests
  • Myofibrillar myopathy, ZASP-related4 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myopathy with extrapyramidal signs2 tests
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy with postural muscle atrophy, X-linked3 tests
  • Myopathy with tubular aggregates3 tests
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset5 tests
  • Myopathy, centronuclear, 14 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 44 tests
  • Myopathy, congenital, compton-north4 tests
  • Myopathy, distal, 13 tests
  • Myopathy, distal, 23 tests
  • Myopathy, distal, 42 tests
  • Myopathy, distal, with anterior tibial onset2 tests
  • Myopathy, myosin storage, autosomal recessive1 test
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe3 tests
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosin storage myopathy4 tests
  • Myotilinopathy4 tests
  • N-terminal acetyltransferase deficiency2 tests
  • Naegeli-Franceschetti-Jadassohn syndrome1 test
  • Nager syndrome3 tests
  • Nail disorder, nonsyndromic congenital, 81 test
  • Nail-patella syndrome3 tests
  • Nakajo syndrome2 tests
  • Nance-Horan syndrome3 tests
  • Nanophthalmos 21 test
  • Native American myopathy4 tests
  • Navajo neurohepatopathy2 tests
  • Naxos disease2 tests
  • Nemaline myopathy1 test
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 103 tests
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 35 tests
  • Nemaline myopathy 45 tests
  • Nemaline myopathy 54 tests
  • Nemaline myopathy 64 tests
  • Nemaline myopathy 74 tests
  • Nemaline myopathy 87 tests
  • Nemaline myopathy 92 tests
  • Neonatal adrenoleucodystrophy2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency4 tests
  • Neonatal severe hyperparathyroidism1 test
  • Neoplasm of ovary2 tests
  • Nephroblastoma3 tests
  • Nephrogenic diabetes insipidus, autosomal2 tests
  • Nephrogenic diabetes insipidus, X-linked2 tests
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis 12 tests
  • Nephronophthisis 112 tests
  • Nephronophthisis 123 tests
  • Nephronophthisis 132 tests
  • Nephronophthisis 142 tests
  • Nephronophthisis 153 tests
  • Nephronophthisis 163 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 42 tests
  • Nephronophthisis 73 tests
  • Nephronophthisis 93 tests
  • Nephronophthisis type 61 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis2 tests
  • Nephrotic syndrome, idiopathic, steroid-resistant2 tests
  • Nephrotic syndrome, type 102 tests
  • Nephrotic syndrome, type 112 tests
  • Nephrotic syndrome, type 122 tests
  • Nephrotic syndrome, type 132 tests
  • Nephrotic syndrome, type 32 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities2 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 72 tests
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 93 tests
  • Netherton syndrome2 tests
  • Neu-Laxova syndrome 11 test
  • Neuroblastoma2 tests
  • Neuroblastoma 22 tests
  • Neuroblastoma 32 tests
  • Neurodegeneration with brain iron accumulation 2b2 tests
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 53 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy1 test
  • Neurofibromatosis, familial spinal2 tests
  • Neurofibromatosis, type 14 tests
  • Neurofibromatosis, type 21 test
  • Neurofibromatosis-Noonan syndrome2 tests
  • Neurohypophyseal diabetes insipidus2 tests
  • Neuromyotonia and axonal neuropathy, autosomal recessive3 tests
  • Neuronopathy, distal hereditary motor, type viia3 tests
  • Neuropathy hereditary sensory and autonomic type 12 tests
  • Neuropathy, hereditary motor and sensory, Okinawa type1 test
  • Neuropathy, hereditary motor and sensory, russe type4 tests
  • Neuropathy, hereditary sensory and autonomic, type VII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive5 tests
  • Neutral lipid storage disease with myopathy4 tests
  • Neutropenia, nonimmune chronic idiopathic, of adults2 tests
  • Newfoundland rod-cone dystrophy3 tests
  • Niemann-Pick disease type C12 tests
  • Niemann-Pick disease type C22 tests
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Night blindness, congenital stationary, type 1g2 tests
  • Nijmegen breakage syndrome-like disorder2 tests
  • NODAL-Related Holoprosencephaly1 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonaka myopathy3 tests
  • Noonan syndrome 14 tests
  • Noonan syndrome 102 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 44 tests
  • Noonan syndrome 54 tests
  • Noonan syndrome 64 tests
  • Noonan syndrome 74 tests
  • Noonan syndrome 84 tests
  • Noonan syndrome 92 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia4 tests
  • Noonan-like syndrome with loose anagen hair4 tests
  • Norum disease1 test
  • NSDHL-Related Disorders2 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 12 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 23 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 32 tests
  • Nystagmus 6, congenital, X-linked2 tests
  • Obesity3 tests
  • Occult macular dystrophy2 tests
  • Ochoa syndrome2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II3 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 42 tests
  • Oculodentodigital dysplasia1 test
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome3 tests
  • Oculomelic amyoplasia2 tests
  • Odontoonychodermal dysplasia2 tests
  • Odontotrichomelic syndrome1 test
  • Oguchi's disease3 tests
  • Ohdo syndrome, X-linked1 test
  • Oligodontia-colorectal cancer syndrome1 test
  • Oligosynaptic infertility2 tests
  • Oocyte maturation defect 13 tests
  • Opitz-Frias syndrome2 tests
  • Optic atrophy 72 tests
  • Optic atrophy and cataract, autosomal dominant3 tests
  • Optic nerve hypoplasia, bilateral2 tests
  • Oral-facial-digital syndrome1 test
  • Ornithine aminotransferase deficiency3 tests
  • Ornithine carbamoyltransferase deficiency4 tests
  • Orofacial-digital syndrome IV1 test
  • Orotic aciduria1 test
  • Osler hemorrhagic telangiectasia syndrome2 tests
  • Osteoarthritis with mild chondrodysplasia3 tests
  • Osteogenesis imperfecta type 103 tests
  • Osteogenesis imperfecta type 123 tests
  • Osteogenesis imperfecta type 53 tests
  • Osteogenesis imperfecta type 73 tests
  • Osteogenesis imperfecta type 83 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I4 tests
  • Osteogenesis imperfecta type III4 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form4 tests
  • Osteogenesis imperfecta, CREB3L1 related2 tests
  • Osteogenesis imperfecta, recessive perinatal lethal4 tests
  • Osteogenesis imperfecta, type VI3 tests
  • Osteogenesis imperfecta, type XI3 tests
  • Osteogenesis imperfecta, type xiii3 tests
  • Osteogenesis imperfecta, type xiv2 tests
  • Osteogenesis imperfecta, type xv3 tests
  • Osteoglophonic dysplasia3 tests
  • Osteopetrosis autosomal dominant type 12 tests
  • Osteopetrosis autosomal dominant type 21 test
  • Osteopetrosis autosomal recessive 11 test
  • Osteopetrosis autosomal recessive 21 test
  • Osteopetrosis autosomal recessive 41 test
  • Osteopetrosis autosomal recessive 71 test
  • Osteopetrosis with renal tubular acidosis3 tests
  • Osteopetrosis, autosomal recessive 51 test
  • Osteopetrosis, autosomal recessive 81 test
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • Otospondylomegaepiphyseal dysplasia3 tests
  • Ovarian dysgenesis 13 tests
  • Ovarian dysgenesis 23 tests
  • Ovarian hyperstimulation syndrome3 tests
  • Paget disease of bone 2, early-onset3 tests
  • Pallister-Hall syndrome2 tests
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal4 tests
  • Palmoplantar keratoderma and woolly hair2 tests
  • Palmoplantar keratoderma, nonepidermolytic1 test
  • Pancreatic cancer 22 tests
  • Pancreatic cancer 32 tests
  • Pancreatic cancer 43 tests
  • Panhypopituitarism X-linked5 tests
  • Panic disorder 11 test
  • Papillon-Lefèvre syndrome1 test
  • Paraganglioma and gastric stromal sarcoma4 tests
  • Paragangliomas 13 tests
  • Paragangliomas 22 tests
  • Paragangliomas 33 tests
  • Paragangliomas 43 tests
  • Paragangliomas 52 tests
  • Paramyotonia congenita of von Eulenburg1 test
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma2 tests
  • Parietal foramina1 test
  • Parietal foramina with cleidocranial dysplasia1 test
  • Paris-Trousseau thrombocytopenia2 tests
  • Parkinson disease 11 test
  • Parkinson disease 142 tests
  • Parkinson disease 151 test
  • Parkinson disease 19a, juvenile-onset1 test
  • Parkinson disease 22 tests
  • Parkinson disease 20, early-onset1 test
  • Parkinson disease 41 test
  • Parkinson disease 6, autosomal recessive early-onset2 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant1 test
  • Parkinson disease 94 tests
  • Parkinson disease, late-onset1 test
  • Parkinsonism, early onset with mental retardation1 test
  • Paroxysmal choreoathetosis1 test
  • Paroxysmal extreme pain disorder2 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Patterned dystrophy of retinal pigment epithelium3 tests
  • Peeling skin syndrome, acral type1 test
  • Pelizaeus-Merzbacher disease2 tests
  • Pena-Shokeir syndrome type I5 tests
  • Pendred's syndrome2 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Periventricular nodular heterotopia 13 tests
  • Permanent neonatal diabetes mellitus2 tests
  • Peroxisome biogenesis disorder 10A2 tests
  • Peroxisome biogenesis disorder 11A2 tests
  • Peroxisome biogenesis disorder 11B2 tests
  • Peroxisome biogenesis disorder 12A2 tests
  • Peroxisome biogenesis disorder 13A2 tests
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1B2 tests
  • Peroxisome biogenesis disorder 2a (zellweger)1 test
  • Peroxisome biogenesis disorder 3A4 tests
  • Peroxisome biogenesis disorder 4a (zellweger)4 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5a (zellweger)2 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A4 tests
  • Peroxisome biogenesis disorder 6B2 tests
  • Peroxisome biogenesis disorder 7A4 tests
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A2 tests
  • Peroxisome biogenesis disorder 8B2 tests
  • Peroxisome biogenesis disorder 9B2 tests
  • Perrault syndrome 21 test
  • Perrault syndrome 33 tests
  • Perrault syndrome 41 test
  • Perry syndrome2 tests
  • Persistent hyperinsulinemic hypoglycemia of infancy3 tests
  • Persistent Mullerian duct syndrome3 tests
  • Peters plus syndrome1 test
  • Pettigrew syndrome1 test
  • Peutz-Jeghers syndrome4 tests
  • Pfeiffer syndrome5 tests
  • Phenylketonuria2 tests
  • Pheochromocytoma5 tests
  • Phosphate transport defect3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial3 tests
  • Phosphoglycerate dehydrogenase deficiency1 test
  • Phosphoglycerate kinase 1 deficiency2 tests
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Phytanic acid storage disease2 tests
  • Pierson syndrome1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy10 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented paravenous chorioretinal atrophy2 tests
  • Pili torti-deafness syndrome2 tests
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 24 tests
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined 11 test
  • Pituitary hormone deficiency, combined 26 tests
  • Pituitary hormone deficiency, combined 34 tests
  • Pituitary hormone deficiency, combined 45 tests
  • Pityriasis rubra pilaris1 test
  • Plasminogen activator inhibitor type 1 deficiency2 tests
  • Platelet glycoprotein IV deficiency2 tests
  • Platelet-type bleeding disorder 113 tests
  • Platelet-type bleeding disorder 13, susceptibility to3 tests
  • Platelet-type bleeding disorder 152 tests
  • Platelet-type bleeding disorder 172 tests
  • Platelet-type bleeding disorder 192 tests
  • Platelet-type bleeding disorder 83 tests
  • Platelet-type bleeding disorder 92 tests
  • Platyspondylic lethal skeletal dysplasia Torrance type3 tests
  • Pleuropulmonary blastoma2 tests
  • Pneumothorax, primary spontaneous1 test
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis1 test
  • Polycystic kidney disease 24 tests
  • Polycystic kidney disease 33 tests
  • Polycystic kidney disease, adult type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy3 tests
  • Polyglandular autoimmune syndrome, type 15 tests
  • Polyglucosan body myopathy 21 test
  • Polymicrogyria, asymmetric1 test
  • Polymicrogyria, bilateral frontoparietal1 test
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract3 tests
  • Pontocerebellar hypoplasia type 11 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 43 tests
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia, type 1b1 test
  • Popliteal pterygium syndrome1 test
  • Popliteal pterygium syndrome lethal type1 test
  • Porokeratosis, disseminated superficial actinic 11 test
  • Porphobilinogen synthase deficiency2 tests
  • Postaxial polydactyly type A11 test
  • Posterior column ataxia with retinitis pigmentosa4 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Postmenopausal osteoporosis2 tests
  • Potassium aggravated myotonia2 tests
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome1 test
  • Preaxial deficiency, postaxial polydactyly and hypospadias1 test
  • Preaxial polydactyly 41 test
  • Premature chromatid separation trait2 tests
  • Premature ovarian failure 11 test
  • Premature ovarian failure 103 tests
  • Premature ovarian failure 32 tests
  • Premature ovarian failure 52 tests
  • Premature ovarian failure 62 tests
  • Premature ovarian failure 72 tests
  • Premature ovarian failure 92 tests
  • Pretibial epidermolysis bullosa2 tests
  • Primary aldosteronism, seizures, and neurologic abnormalities2 tests
  • Primary autosomal recessive microcephaly 12 tests
  • Primary autosomal recessive microcephaly 22 tests
  • Primary autosomal recessive microcephaly 32 tests
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 62 tests
  • Primary autosomal recessive microcephaly 72 tests
  • Primary autosomal recessive microcephaly 92 tests
  • Primary ciliary dyskinesia4 tests
  • Primary ciliary dyskinesia 234 tests
  • Primary ciliary dyskinesia 243 tests
  • Primary ciliary dyskinesia 254 tests
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia2 tests
  • Primary hyperoxaluria, type I3 tests
  • Primary hyperoxaluria, type II3 tests
  • Primary hyperoxaluria, type III2 tests
  • Primary hypomagnesemia3 tests
  • Primary open angle glaucoma1 test
  • Primary open angle glaucoma juvenile onset 12 tests
  • Primary pulmonary hypertension1 test
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 62 tests
  • Progressive familial heart block type 1A1 test
  • Progressive familial heart block type 1B2 tests
  • Progressive familial intrahepatic cholestasis 23 tests
  • Progressive familial intrahepatic cholestasis 33 tests
  • Progressive familial intrahepatic cholestasis 42 tests
  • Progressive intrahepatic cholestasis3 tests
  • Progressive myositis ossificans1 test
  • Progressive sclerosing poliodystrophy4 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Prolactinoma, familial1 test
  • Proopiomelanocortin deficiency2 tests
  • Propionic acidemia4 tests
  • Proprotein convertase 1/3 deficiency6 tests
  • Protein S deficiency1 test
  • Prothrombin deficiency, congenital3 tests
  • Protoporphyria, erythropoietic, X-linked3 tests
  • Pseudo-Hurler polydystrophy1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 1 autosomal dominant1 test
  • Pseudohypoaldosteronism type 1 autosomal recessive3 tests
  • Pseudohypoaldosteronism type 2B2 tests
  • Pseudohypoaldosteronism type 2C2 tests
  • Pseudohypoaldosteronism type 2D2 tests
  • Pseudohypoaldosteronism type 2E2 tests
  • Pseudohypoparathyroidism type 1A2 tests
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudoneonatal adrenoleukodystrophy2 tests
  • Pseudoprimary hyperaldosteronism2 tests
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency2 tests
  • Psoriasis susceptibility 21 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pustular psoriasis, generalized2 tests
  • Pyogenic arthritis, pyoderma gangrenosum and acne1 test
  • Pyridoxal 5'-phosphate-dependent epilepsy3 tests
  • Pyridoxine-dependent epilepsy3 tests
  • Pyruvate carboxylase deficiency3 tests
  • Pyruvate dehydrogenase E1-alpha deficiency3 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency2 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency2 tests
  • Pyruvate kinase deficiency of red cells1 test
  • Quebec platelet disorder2 tests
  • Radial aplasia-thrombocytopenia syndrome4 tests
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia2 tests
  • Rapadilino syndrome2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • Recessive dystrophic epidermolysis bullosa2 tests
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal adysplasia2 tests
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma, nonpapillary2 tests
  • Renal cell carcinoma, papillary, 13 tests
  • Renal coloboma syndrome2 tests
  • Renal dysplasia6 tests
  • Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia1 test
  • Renal hamartomas nephroblastomatosis and fetal gigantism1 test
  • Renal hypodysplasia/aplasia 21 test
  • Renal hypouricemia 22 tests
  • Renal tubular acidosis with progressive nerve deafness3 tests
  • Renal tubular acidosis, distal, autosomal dominant3 tests
  • Renal tubular acidosis, distal, autosomal recessive3 tests
  • Renal tubular acidosis, distal, with hemolytic anemia2 tests
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
  • Renpenning syndrome 12 tests
  • Reticulate acropigmentation of Kitamura1 test
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 3B2 tests
  • Retinal cone dystrophy 44 tests
  • Retinitis pigmentosa4 tests
  • Retinitis pigmentosa 15 tests
  • Retinitis pigmentosa 104 tests
  • Retinitis pigmentosa 115 tests
  • Retinitis pigmentosa 126 tests
  • Retinitis pigmentosa 134 tests
  • Retinitis pigmentosa 144 tests
  • Retinitis pigmentosa 154 tests
  • Retinitis pigmentosa 174 tests
  • Retinitis pigmentosa 184 tests
  • Retinitis pigmentosa 195 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 206 tests
  • Retinitis Pigmentosa 233 tests
  • Retinitis pigmentosa 255 tests
  • Retinitis pigmentosa 266 tests
  • Retinitis pigmentosa 275 tests
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 304 tests
  • Retinitis pigmentosa 314 tests
  • Retinitis pigmentosa 335 tests
  • Retinitis pigmentosa 355 tests
  • Retinitis pigmentosa 363 tests
  • Retinitis pigmentosa 375 tests
  • Retinitis pigmentosa 385 tests
  • Retinitis pigmentosa 393 tests
  • Retinitis pigmentosa 45 tests
  • Retinitis pigmentosa 405 tests
  • Retinitis pigmentosa 414 tests
  • Retinitis pigmentosa 423 tests
  • Retinitis pigmentosa 434 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 454 tests
  • Retinitis pigmentosa 463 tests
  • Retinitis pigmentosa 474 tests
  • Retinitis pigmentosa 485 tests
  • Retinitis pigmentosa 494 tests
  • Retinitis pigmentosa 505 tests
  • Retinitis pigmentosa 513 tests
  • Retinitis pigmentosa 543 tests
  • Retinitis pigmentosa 553 tests
  • Retinitis pigmentosa 564 tests
  • Retinitis pigmentosa 573 tests
  • Retinitis pigmentosa 584 tests
  • Retinitis pigmentosa 593 tests
  • Retinitis pigmentosa 604 tests
  • Retinitis pigmentosa 613 tests
  • Retinitis pigmentosa 623 tests
  • Retinitis pigmentosa 664 tests
  • Retinitis pigmentosa 683 tests
  • Retinitis pigmentosa 76 tests
  • Retinitis pigmentosa with or without situs inversus3 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness4 tests
  • Retinoblastoma1 test
  • Rett syndrome5 tests
  • Rett syndrome, congenital variant4 tests
  • Revesz syndrome2 tests
  • Rhabdoid tumor predisposition syndrome 12 tests
  • Rhabdoid tumor predisposition syndrome 22 tests
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 32 tests
  • Ring dermoid of cornea2 tests
  • Rippling muscle disease2 tests
  • Ritscher-schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow Sorauf syndrome1 test
  • Robinow syndrome, autosomal recessive1 test
  • Rothmund-Thomson syndrome2 tests
  • Rotor syndrome3 tests
  • Rubinstein-Taybi syndrome3 tests
  • Rubinstein-Taybi syndrome 23 tests
  • Saethre-Chotzen syndrome4 tests
  • Salla disease1 test
  • Sandhoff disease1 test
  • Sarcotubular myopathy3 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation1 test
  • Scapuloperoneal myopathy, MYH7-related2 tests
  • Scapuloperoneal myopathy, X-linked dominant4 tests
  • Scapuloperoneal spinal muscular atrophy2 tests
  • Schimke immunoosseous dysplasia2 tests
  • Schnyder crystalline corneal dystrophy2 tests
  • Schopf-Schulz-Passarge syndrome2 tests
  • Schwannomatosis 11 test
  • Schwannomatosis 22 tests
  • SCN2A-related generalized epilepsy with febrile seizures plus1 test
  • SCOTT SYNDROME3 tests
  • Sebastian syndrome6 tests
  • Seckel syndrome1 test
  • Seckel syndrome 41 test
  • Seckel syndrome 51 test
  • Secondary hypothyroidism2 tests
  • Segawa syndrome, autosomal recessive1 test
  • Seizures, benign familial infantile, 23 tests
  • Seizures, cortical blindness, and microcephaly syndrome1 test
  • Selective tooth agenesis 11 test
  • Senior-Loken syndrome 11 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 55 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 73 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Sepiapterin reductase deficiency1 test
  • Septo-optic dysplasia sequence6 tests
  • Serkal syndrome1 test
  • SeSAME syndrome3 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type4 tests
  • Severe combined immunodeficiency due to ADA deficiency1 test
  • Severe combined immunodeficiency with sensitivity to ionizing radiation1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
  • Severe congenital neutropenia 2, autosomal dominant2 tests
  • Severe congenital neutropenia 3, autosomal recessive2 tests
  • Severe congenital neutropenia 4, autosomal recessive2 tests
  • Severe congenital neutropenia 5, autosomal recessive2 tests
  • Severe congenital neutropenia autosomal dominant3 tests
  • Severe congenital neutropenia X-linked2 tests
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive2 tests
  • Severe myoclonic epilepsy in infancy5 tests
  • Severe X-linked myotubular myopathy4 tests
  • Short QT syndrome 13 tests
  • Short QT syndrome 23 tests
  • Short QT syndrome 32 tests
  • Short rib polydactyly syndrome 52 tests
  • Short rib-polydactyly syndrome, Majewski type1 test
  • Short stature, idiopathic, autosomal1 test
  • Short stature, idiopathic, X-linked1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short-rib thoracic dysplasia 10 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 11 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome1 test
  • Sialic acid storage disease, severe infantile type3 tests
  • Sialuria1 test
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Sick sinus syndrome 2, autosomal dominant2 tests
  • Siderius X-linked mental retardation syndrome1 test
  • Simpson-Golabi-Behmel syndrome2 tests
  • Simpson-Golabi-Behmel syndrome, type 22 tests
  • Singleton-Merten syndrome 11 test
  • Sitosterolemia5 tests
  • Sjögren-Larsson syndrome1 test
  • Skin fragility woolly hair syndrome2 tests
  • Skin/hair/eye pigmentation, variation in, 12 tests
  • Skin/hair/eye pigmentation, variation in, 21 test
  • Skin/hair/eye pigmentation, variation in, 32 tests
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Slow acetylator due to N-acetyltransferase enzyme variant1 test
  • Smith-Lemli-Opitz syndrome3 tests
  • Smith-Magenis syndrome1 test
  • Snyder Robinson syndrome2 tests
  • Somatotroph adenoma1 test
  • Sorsby fundus dystrophy3 tests
  • Sotos' syndrome1 test
  • Spastic ataxia Charlevoix-Saguenay type1 test
  • Spastic paraplegia 14 tests
  • Spastic paraplegia 106 tests
  • Spastic paraplegia 11, autosomal recessive4 tests
  • Spastic paraplegia 123 tests
  • Spastic paraplegia 132 tests
  • Spastic paraplegia 153 tests
  • Spastic paraplegia 174 tests
  • Spastic paraplegia 183 tests
  • Spastic paraplegia 24 tests
  • Spastic paraplegia 262 tests
  • Spastic paraplegia 28, autosomal recessive4 tests
  • Spastic paraplegia 34 tests
  • Spastic paraplegia 30, autosomal recessive3 tests
  • Spastic paraplegia 31, autosomal dominant4 tests
  • Spastic paraplegia 33, autosomal dominant2 tests
  • Spastic paraplegia 353 tests
  • Spastic paraplegia 392 tests
  • Spastic paraplegia 4, autosomal dominant4 tests
  • Spastic paraplegia 42, autosomal dominant3 tests
  • Spastic paraplegia 43, autosomal recessive2 tests
  • Spastic paraplegia 44, autosomal recessive2 tests
  • Spastic paraplegia 45, autosomal recessive3 tests
  • Spastic paraplegia 46, autosomal recessive2 tests
  • Spastic paraplegia 47, autosomal recessive3 tests
  • Spastic paraplegia 48, autosomal recessive3 tests
  • Spastic paraplegia 49, autosomal recessive3 tests
  • Spastic paraplegia 50, autosomal recessive3 tests
  • Spastic paraplegia 51, autosomal recessive3 tests
  • Spastic paraplegia 52, autosomal recessive3 tests
  • Spastic paraplegia 53, autosomal recessive3 tests
  • Spastic paraplegia 54, autosomal recessive3 tests
  • Spastic paraplegia 55, autosomal recessive2 tests
  • Spastic paraplegia 56, autosomal recessive3 tests
  • Spastic paraplegia 57, autosomal recessive2 tests
  • Spastic paraplegia 5A3 tests
  • Spastic paraplegia 64 tests
  • Spastic paraplegia 61, autosomal recessive3 tests
  • Spastic paraplegia 62, autosomal recessive1 test
  • Spastic paraplegia 63, autosomal recessive2 tests
  • Spastic paraplegia 64, autosomal recessive2 tests
  • Spastic paraplegia 76 tests
  • Spastic paraplegia 72, autosomal recessive3 tests
  • Spastic paraplegia 75, autosomal recessive2 tests
  • Spastic paraplegia 84 tests
  • Spermatogenic failure 32 tests
  • Spermatogenic failure 83 tests
  • Spermatogenic failure, X-linked, 22 tests
  • Spermatogenic failure, Y-linked 21 test
  • Spermatogenic failure, Y-linked, 11 test
  • Spherocytosis type 12 tests
  • Spherocytosis type 22 tests
  • Spherocytosis type 32 tests
  • Spherocytosis type 42 tests
  • Spherocytosis type 52 tests
  • Spheroid body myopathy1 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 52 tests
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant2 tests
  • Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant4 tests
  • Spinocerebellar ataxia 142 tests
  • Spinocerebellar ataxia 211 test
  • Spinocerebellar ataxia autosomal recessive 14 tests
  • Spinocerebellar ataxia, autosomal recessive 101 test
  • Spinocerebellar ataxia, autosomal recessive 123 tests
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Split-hand/foot malformation 41 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 22 tests
  • Spondylocostal dysostosis 32 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondylocostal dysostosis 51 test
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia Strudwick type3 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia, pakistani type1 test
  • Spondyloepiphyseal dysplasia congenita3 tests
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaepiphyseal dysplasia short limb-hand type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondyloperipheral dysplasia4 tests
  • Spongy degeneration of central nervous system1 test
  • Stapes ankylosis with broad thumb and toes1 test
  • Stargardt disease 16 tests
  • Stargardt Disease 34 tests
  • Stargardt disease 44 tests
  • Stickler syndrome type 13 tests
  • Stickler syndrome, type 22 tests
  • Stickler syndrome, type 32 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Stickler syndrome, type I, nonsyndromic ocular3 tests
  • Stuttering, familial persistent 24 tests
  • Subacute neuronopathic Gaucher's disease1 test
  • Succinyl-CoA acetoacetate transferase deficiency2 tests
  • Sulfite oxidase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Suxamethonium sensitivity1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly Cenani Lenz type1 test
  • Syndactyly type 91 test
  • Syndromic mental retardation, Nascimento type, X-linked1 test
  • Syndromic X-linked mental retardation, Cabezas type2 tests
  • TARP syndrome1 test
  • Tarsal carpal coalition syndrome1 test
  • Tay-Sachs disease2 tests
  • Tay-Sachs disease, variant AB1 test
  • Temple-Baraitser syndrome1 test
  • Temtamy preaxial brachydactyly syndrome1 test
  • Terminal osseous dysplasia1 test
  • Testicular anomalies with or without congenital heart disease3 tests
  • Testosterone 17-beta-dehydrogenase deficiency5 tests
  • Tetralogy of Fallot4 tests
  • Thanatophoric dysplasia type 15 tests
  • Thanatophoric dysplasia, type 25 tests
  • Thiel-Behnke corneal dystrophy2 tests
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 11 test
  • Three M syndrome 31 test
  • Thrombocytopenia 26 tests
  • Thrombocytopenia 44 tests
  • Thrombocytopenia 51 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombocytopenia, X-linked3 tests
  • Thrombocytosis, benign familial microcytic1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
  • Thromboxane synthetase deficiency2 tests
  • Thyroglobulin synthesis defect2 tests
  • Thyroid agenesis2 tests
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 62 tests
  • Thyroid hormone metabolism, abnormal2 tests
  • Thyroid hormone resistance, generalized, autosomal dominant2 tests
  • Thyroid hormone resistance, generalized, autosomal recessive2 tests
  • Thyroid hormone resistance, selective pituitary2 tests
  • Tietz syndrome1 test
  • Timothy syndrome4 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Tooth agenesis, selective, 31 test
  • Tooth agenesis, selective, 42 tests
  • Tooth agenesis, selective, X-linked, 12 tests
  • Townes syndrome2 tests
  • Transcobalamin II deficiency2 tests
  • Transient bullous dermolysis of the newborn2 tests
  • Transposition of the great arteries, dextro-looped 32 tests
  • Treacher Collins syndrome 13 tests
  • Treacher Collins syndrome 23 tests
  • Tricho-dento-osseous syndrome1 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome type 31 test
  • Trichothiodystrophy 1, photosensitive2 tests
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 13 tests
  • Trimethylaminuria1 test
  • Triosephosphate isomerase deficiency1 test
  • Tropical calcific pancreatitis1 test
  • Troyer syndrome3 tests
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 23 tests
  • Tumor susceptibility linked to germline BAP1 mutations3 tests
  • Tumoral calcinosis, familial, hyperphosphatemic2 tests
  • Turcot syndrome3 tests
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosine kinase 2 deficiency2 tests
  • Tyrosinemia type 21 test
  • Tyrosinemia type I1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy 17 tests
  • Ullrich congenital muscular dystrophy 23 tests
  • Ulnar-mammary syndrome1 test
  • Unverricht-Lundborg syndrome2 tests
  • Upshaw-Schulman syndrome4 tests
  • Urofacial syndrome 21 test
  • Usher syndrome, type 12 tests
  • Usher syndrome, type 1C2 tests
  • Usher syndrome, type 1D3 tests
  • Usher syndrome, type 1F2 tests
  • Usher syndrome, type 1G2 tests
  • Usher syndrome, type 1J2 tests
  • Usher syndrome, type 2A2 tests
  • Usher syndrome, type 2C3 tests
  • Usher syndrome, type 2D2 tests
  • Usher syndrome, type 3A2 tests
  • UV-sensitive syndrome1 test
  • VACTERL association with hydrocephalus1 test
  • Van der Woude syndrome1 test
  • Van der Woude syndrome 21 test
  • Van Maldergem syndrome 11 test
  • Variegate porphyria4 tests
  • VATER association1 test
  • Ventricular septal defect 11 test
  • Ventricular septal defect 31 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 43 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3 tests
  • Verloes Bourguignon syndrome1 test
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Vesicoureteral reflux 21 test
  • Vesicoureteral reflux 31 test
  • Vesicoureteral reflux 81 test
  • Visceral heterotaxy 5, autosomal3 tests
  • Vitamin D-dependent rickets, type 12 tests
  • Vitamin D-dependent rickets, type 21 test
  • Vitamin k-dependent clotting factors, combined deficiency of, 22 tests
  • Vitelliform macular dystrophy type 23 tests
  • Vitreoretinochoroidopathy3 tests
  • Vitreoretinopathy, neovascular inflammatory1 test
  • Von Hippel-Lindau syndrome3 tests
  • von Willebrand disease type 13 tests
  • von Willebrand disease type 23 tests
  • Von Willebrand disease, recessive form3 tests
  • Waardenburg syndrome type 12 tests
  • Waardenburg syndrome type 2A3 tests
  • Waardenburg syndrome type 2D2 tests
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 4A3 tests
  • Waardenburg syndrome type 4B3 tests
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome4 tests
  • Walker-Warburg congenital muscular dystrophy2 tests
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 31 test
  • Weissenbacher-Zweymuller syndrome2 tests
  • Werner syndrome2 tests
  • West syndrome1 test
  • WFS1-Related Disorders2 tests
  • Wieacker syndrome2 tests
  • Wiedemann-Steiner syndrome2 tests
  • Wilms tumor 14 tests
  • Wilson disease1 test
  • Wilson-Turner X-linked mental retardation syndrome2 tests
  • Wiskott-Aldrich syndrome4 tests
  • Wolff-Parkinson-White pattern2 tests
  • Wolfram syndrome 23 tests
  • Wolfram-like syndrome, autosomal dominant2 tests
  • Wrinkly skin syndrome1 test
  • X-linked agammaglobulinemia1 test
  • X-linked hereditary motor and sensory neuropathy4 tests
  • X-linked hydrocephalus syndrome1 test
  • X-Linked Mental Retardation 411 test
  • X-Linked mental retardation 901 test
  • X-linked mental retardation with marfanoid habitus syndrome2 tests
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency1 test
  • Xerocytosis2 tests
  • Xeroderma pigmentosum, complementation group b2 tests
  • Xeroderma pigmentosum, group C2 tests
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E2 tests
  • Xeroderma pigmentosum, group F2 tests
  • Xeroderma pigmentosum, group G2 tests
  • Xeroderma pigmentosum, type 12 tests
  • Xeroderma pigmentosum, variant type2 tests
  • XFE progeroid syndrome2 tests
  • Young Simpson syndrome2 tests
  • Zellweger syndrome5 tests
  • Zimmermann-Laband syndrome 11 test
  • Zonular pulverulent cataract 31 test

List of services

  • Prenatal testing
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Genetic counseling
  • Insurance billing
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 100,200,300
  • Confirmation of research findings: Order Code: 100,200,300
  • Carrier testing: Order Code: 100,200,300
  • Mutation Confirmation: Order Code: 100,200,300
  • DNA Banking: Order Code: 500
  • Custom Deletion/Duplication Testing: Order Code: 600
  • Custom microarray analysis: Order Code: 600
  • Maternal cell contamination study (MCC): Order Code: 800

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 52D2065132, Expiration date: 2018-04-01
  • CAP, Number: 7185561, AU ID: 1407125, Expiration date: 2018-12-20
  • ISO15189, Number: 3950.01, Expiration date: 2018-05-31

Licenses

  • CA - California Department of Public Health CDPH, Number: COS 00800542, Expiration date: 2017-11-16
  • FL - Florida Agency for Health Care Administration AHCA, Number: 80002641, Expiration date: 2018-04-23
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1303, Expiration date: 2018-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 033884, Expiration date: 2017-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00694, Expiration date: 2017-12-30

Participation in external programs

Standardization programs

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Data exchange Programs

  • Locus-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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