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CeGaT GmbH

GTR Lab ID: 319947, Last updated:2018-07-05

Personnel

Conditions and tests

  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-methyl-3-hydroxybutyric aciduria1 test
  • 3-Methylglutaconic aciduria type 13 tests
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Methylglutaconic aciduria type 33 tests
  • 3-methylglutaconic aciduria type V1 test
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1 test
  • 4p partial monosomy syndrome2 tests
  • 6-pyruvoyl-tetrahydropterin synthase deficiency1 test
  • Aarskog syndrome1 test
  • Abetalipoproteinaemia1 test
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB2 tests
  • Achondrogenesis, type II2 tests
  • Achondroplasia3 tests
  • Achromatopsia1 test
  • Achromatopsia 101 test
  • Achromatopsia 22 tests
  • Achromatopsia 32 tests
  • Achromatopsia 42 tests
  • Achromatopsia 51 test
  • Achromatopsia 61 test
  • Achromatopsia 72 tests
  • Achromatopsia 81 test
  • Achromatopsia 91 test
  • Acne inversa, familial, 31 test
  • Acquired hemoglobin H disease1 test
  • Acrocallosal syndrome, Schinzel type4 tests
  • Acrocephalosyndactyly type I1 test
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acrodysostosis 2, with or without hormone resistance2 tests
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromelic frontonasal dysostosis1 test
  • Acromesomelic dysplasia Maroteaux type1 test
  • Acute lymphoid leukemia1 test
  • Acute myeloid leukemia6 tests
  • Acute neuronopathic Gaucher's disease1 test
  • Adenosine triphosphate, elevated, of erythrocytes1 test
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adolescent nephronophthisis2 tests
  • Adrenoleukodystrophy6 tests
  • Adult hypophosphatasia1 test
  • Adult junctional epidermolysis bullosa1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult proximal spinal muscular atrophy, autosomal dominant6 tests
  • Afibrinogenemia, congenital1 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agammaglobulinemia, non-Bruton type1 test
  • Age-related macular degeneration2 tests
  • Age-related macular degeneration 51 test
  • Age-related macular degeneration 71 test
  • Aicardi Goutieres syndrome7 tests
  • Aicardi Goutieres syndrome 110 tests
  • Aicardi Goutieres syndrome 27 tests
  • Aicardi Goutieres syndrome 36 tests
  • Aicardi Goutieres syndrome 46 tests
  • Aicardi Goutieres syndrome 57 tests
  • Aicardi-Goutieres syndrome 67 tests
  • Alagille syndrome 12 tests
  • Alagille syndrome 21 test
  • Albinism1 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • Albinism, oculocutaneous, type V1 test
  • Albinism, oculocutaneous, type VI2 tests
  • Albinism, oculocutaneous, type VII3 tests
  • Alexander's disease9 tests
  • ALG12-congenital disorder of glycosylation3 tests
  • ALG9 congenital disorder of glycosylation3 tests
  • Allan-Herndon-Dudley syndrome1 test
  • Alpha-B crystallinopathy1 test
  • Alpha-ketoglutarate dehydrogenase deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • Alport syndrome, autosomal dominant1 test
  • Alport syndrome, autosomal recessive1 test
  • Alport syndrome, X-linked recessive1 test
  • ALS2-Related Disorders3 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood5 tests
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 26 tests
  • Alzheimer disease 21 test
  • Alzheimer disease, type 12 tests
  • Alzheimer disease, type 35 tests
  • Alzheimer disease, type 44 tests
  • Alzheimer's disease2 tests
  • Amish lethal microcephaly1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis4 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia5 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis 171 test
  • Amyotrophic lateral sclerosis 183 tests
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis 212 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 15 tests
  • Amyotrophic lateral sclerosis type 14 tests
  • Amyotrophic lateral sclerosis type 105 tests
  • Amyotrophic lateral sclerosis type 113 tests
  • Amyotrophic lateral sclerosis type 123 tests
  • Amyotrophic lateral sclerosis type 21 test
  • Amyotrophic lateral sclerosis type 46 tests
  • Amyotrophic lateral sclerosis type 51 test
  • Amyotrophic lateral sclerosis type 66 tests
  • Amyotrophic lateral sclerosis type 85 tests
  • Amyotrophic lateral sclerosis type 93 tests
  • Amyotrophy, hereditary neuralgic1 test
  • Anauxetic dysplasia 11 test
  • Andermann syndrome1 test
  • Andersen Tawil syndrome2 tests
  • Androgen resistance syndrome1 test
  • Anemia sideroblastic and spinocerebellar ataxia2 tests
  • Anemia without thromobocytopenia, X-linked2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Angelman syndrome4 tests
  • Angiokeratoma corporis diffusum with arteriovenous fistulas1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3 tests
  • Aniridia 12 tests
  • Anophthalmia-microphthalmia syndrome2 tests
  • Anterior segment dysgenesis 31 test
  • Antithrombin III deficiency2 tests
  • Antley-Bixler syndrome1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 43 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 82 tests
  • Aortic valve disease 21 test
  • Aortic valve disorder1 test
  • Aplastic anemia2 tests
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 81 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 21 test
  • Arrhythmogenic right ventricular dysplasia, familial, 31 test
  • Arrhythmogenic right ventricular dysplasia, familial, 41 test
  • Arrhythmogenic right ventricular dysplasia, familial, 61 test
  • Arrhythmogenic right ventricular dysplasia, familial, 71 test
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy1 test
  • Arterial tortuosity syndrome1 test
  • Arteriohepatic dysplasia1 test
  • Arts syndrome1 test
  • Aspartylglucosaminuria1 test
  • Asperger syndrome X-linked 11 test
  • Asperger syndrome X-linked 21 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Asplenia, isolated congenital1 test
  • Ataxia with vitamin E deficiency1 test
  • Ataxia, spastic, 3, autosomal recessive1 test
  • Ataxia-oculomotor apraxia type 13 tests
  • Ataxia-telangiectasia syndrome7 tests
  • Ataxia-telangiectasia-like disorder 13 tests
  • Ataxia-telangiectasia-like disorder 21 test
  • Atelosteogenesis type 21 test
  • ATR-X syndrome1 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 92 tests
  • Atrial myxoma, familial1 test
  • Atrial septal defect 11 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 defects2 tests
  • Atrial septal defect 91 test
  • Atrioventricular septal defect1 test
  • Atrioventricular septal defect 51 test
  • Atrioventricular septal defect and common atrioventricular junction2 tests
  • Atrophia bulborum hereditaria1 test
  • Attenuated FAP1 test
  • Atypical hemolytic uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome 13 tests
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical hemolytic-uremic syndrome 42 tests
  • Atypical hemolytic-uremic syndrome 51 test
  • Atypical hemolytic-uremic syndrome 62 tests
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Autism, susceptibility to, X-linked 11 test
  • Autism, susceptibility to, X-linked 21 test
  • Autoimmune disease, multisystem, infantile-onset, 11 test
  • Autoimmune disease, syndromic multisystem1 test
  • Autoimmune interstitial lung, joint, and kidney disease1 test
  • Autoimmune lymphoproliferative syndrome2 tests
  • Autoinflammation with infantile enterocolitis1 test
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated2 tests
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant nocturnal frontal lobe epilepsy1 test
  • Autosomal dominant non-syndromic sensorineural deafness type DFNA1 test
  • Autosomal dominant optic atrophy plus syndrome4 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 15 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 21 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 33 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 42 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 52 tests
  • Autosomal dominant torsion dystonia 45 tests
  • Autosomal hypohidrotic ectodermal dysplasia1 test
  • Autosomal recessive centronuclear myopathy1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Avascular necrosis of the head of femur1 test
  • Axenfeld-Rieger syndrome type 12 tests
  • Axenfeld-Rieger syndrome type 21 test
  • Axenfeld-Rieger syndrome type 32 tests
  • Azorean disease5 tests
  • Baller-Gerold syndrome1 test
  • Bamforth syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter syndrome 13 tests
  • Baraitser-Winter Syndrome 22 tests
  • Barakat syndrome1 test
  • Bardet-Biedl syndrome4 tests
  • Bardet-Biedl syndrome 13 tests
  • Bardet-Biedl syndrome 103 tests
  • Bardet-Biedl syndrome 113 tests
  • Bardet-Biedl syndrome 123 tests
  • Bardet-Biedl syndrome 133 tests
  • Bardet-Biedl syndrome 144 tests
  • Bardet-Biedl syndrome 153 tests
  • Bardet-Biedl syndrome 163 tests
  • Bardet-Biedl syndrome 24 tests
  • Bardet-Biedl syndrome 33 tests
  • Bardet-Biedl syndrome 43 tests
  • Bardet-Biedl syndrome 53 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 73 tests
  • Bardet-Biedl syndrome 84 tests
  • Bardet-Biedl syndrome 93 tests
  • Bartter syndrome type 31 test
  • Bartter syndrome type 41 test
  • Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
  • Basal cell carcinoma, multiple2 tests
  • Basal ganglia calcification, idiopathic, 21 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Basal ganglia disease, biotin-responsive1 test
  • Basal laminar drusen1 test
  • Beaded hair1 test
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome3 tests
  • Benign familial hematuria1 test
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 21 test
  • Benign familial neonatal-infantile seizures1 test
  • Benign hereditary chorea2 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • Bent bone dysplasia syndrome2 tests
  • Bernard Soulier syndrome1 test
  • Bestrophinopathy, autosomal recessive1 test
  • beta Thalassemia1 test
  • Beta-propeller protein-associated neurodegeneration1 test
  • Bethlem myopathy 11 test
  • Bifid nose with or without anorectal and renal anomalies1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bile acid synthesis defect, congenital, 11 test
  • Bile acid synthesis defect, congenital, 33 tests
  • Bile acid synthesis defect, congenital, 41 test
  • Biotinidase deficiency2 tests
  • Bladder cancer, somatic2 tests
  • Blau syndrome2 tests
  • Bloom syndrome3 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Bothnia retinal dystrophy2 tests
  • Brachydactyly type B21 test
  • Brachydactyly type E12 tests
  • Brachydactyly type E21 test
  • Brachydactyly-syndactyly syndrome1 test
  • Brachyolmia - Maroteaux type3 tests
  • Brachyrachia (short spine dysplasia)3 tests
  • Brain small vessel disease with hemorrhage3 tests
  • Branchiootic syndrome 31 test
  • Branchiootorenal Spectrum Disorders1 test
  • Branchiootorenal syndrome 21 test
  • Breast-ovarian cancer, familial 12 tests
  • Breast-ovarian cancer, familial 22 tests
  • Breast-ovarian cancer, familial 32 tests
  • Breast-ovarian cancer, familial 42 tests
  • Brittle cornea syndrome 22 tests
  • Brody myopathy1 test
  • Bronchiectasis with or without elevated sweat chloride 12 tests
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 71 test
  • Brugada syndrome 82 tests
  • Brugada syndrome 91 test
  • Budd-Chiari syndrome1 test
  • Bulbo-spinal atrophy X-linked2 tests
  • Bull's eye macular dystrophy2 tests
  • Bullous ichthyosiform erythroderma1 test
  • C syndrome1 test
  • C-like syndrome1 test
  • C1q deficiency3 tests
  • Café-au-lait macules with pulmonary stenosis1 test
  • Camptodactyly, tall stature, and hearing loss syndrome1 test
  • Camptomelic dysplasia1 test
  • Candidiasis, familial, 21 test
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 81 test
  • Capillary malformation1 test
  • Capillary malformation-arteriovenous malformation4 tests
  • Carbohydrate-deficient glycoprotein syndrome type I2 tests
  • Carbohydrate-deficient glycoprotein syndrome type II1 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of cervix1 test
  • Carcinoma of colon4 tests
  • Carcinoma of pancreas3 tests
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Cardiofaciocutaneous syndrome 13 tests
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiomyopathy, dilated, 1u5 tests
  • Cardiomyopathy, hypertrophic, midventricular, digenic1 test
  • Cardiomyopathy, mitochondrial1 test
  • Cardiomyopathy, restrictive1 test
  • Carnevale syndrome1 test
  • Carney complex, type 11 test
  • Carnitine palmitoyltransferase II deficiency, infantile1 test
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
  • Carpal tunnel syndrome1 test
  • Carpenter syndrome 11 test
  • Carpenter syndrome 21 test
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • Cataract 11 test
  • Cataract 12, multiple types2 tests
  • Cataract 16, multiple types1 test
  • Cataract 401 test
  • Cataract 411 test
  • Cataract 6, multiple types1 test
  • Cataract and cardiomyopathy2 tests
  • Cataract Hutterite type1 test
  • Cataract, Autosomal Dominant Congenital 41 test
  • Cataract, autosomal recessive congenital 11 test
  • Cataract, autosomal recessive congenital 21 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, autosomal recessive congenital 51 test
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, cortical pulverulent, late-onset1 test
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cataract, polymorphic and lamellar1 test
  • Cataracts, Autosomal Dominant1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy1 test
  • Cd8 deficiency, familial1 test
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency1 test
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia5 tests
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss1 test
  • Cerebellar ataxia, Cayman type1 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy5 tests
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy2 tests
  • Cerebral cavernous malformation1 test
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome2 tests
  • Cerebral folate deficiency6 tests
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Cerebro-oculo-facio-skeletal syndrome2 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Cerebroretinal microangiopathy with calcifications and cysts 12 tests
  • Ceroid lipofuscinosis neuronal 12 tests
  • Ceroid lipofuscinosis neuronal 102 tests
  • Ceroid lipofuscinosis neuronal 22 tests
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant3 tests
  • Ceroid lipofuscinosis neuronal 53 tests
  • Ceroid lipofuscinosis neuronal 62 tests
  • Ceroid lipofuscinosis neuronal 72 tests
  • Ceroid lipofuscinosis neuronal 82 tests
  • Ceroid lipofuscinosis, neuronal, 114 tests
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease and deafness2 tests
  • Charcot-Marie-Tooth disease dominant intermediate 32 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2C4 tests
  • Charcot-Marie-Tooth disease type 2D4 tests
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2F3 tests
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2K1 test
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal type 2V1 test
  • Charcot-Marie-Tooth disease, axonal type 2X1 test
  • Charcot-Marie-Tooth disease, axonal, type 2b1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2Q1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4f1 test
  • Charcot-Marie-Tooth disease, dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B1 test
  • Charcot-Marie-Tooth disease, recessive intermediate c3 tests
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 23 tests
  • Charcot-Marie-Tooth disease, type 2A1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 2L3 tests
  • Charcot-Marie-Tooth disease, type 2N2 tests
  • Charcot-Marie-Tooth disease, type 4A2 tests
  • Charcot-Marie-Tooth disease, type 4B11 test
  • Charcot-Marie-Tooth disease, type 4B21 test
  • Charcot-Marie-Tooth disease, type 4B31 test
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type 4D1 test
  • Charcot-Marie-Tooth disease, type 4H1 test
  • Charcot-Marie-Tooth disease, type 4J4 tests
  • Charcot-Marie-Tooth disease, type I1 test
  • Charcot-Marie-Tooth disease, type IA2 tests
  • Charcot-Marie-Tooth disease, type IV4 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 21 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 31 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 52 tests
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Charcot-Marie-Tooth Neuropathy Type 2I/2J1 test
  • Charcot-Marie-Tooth Neuropathy X1 test
  • Charcot-Marie-Tooth Neuropathy X Type 51 test
  • CHARGE association4 tests
  • Chilblain lupus 12 tests
  • Chilblain lupus 23 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Childhood Myocerebrohepatopathy Spectrum Disorders4 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Cholecystitis1 test
  • Cholestanol storage disease6 tests
  • Cholestasis of pregnancy1 test
  • Cholestasis, benign recurrent intrahepatic 11 test
  • Cholestasis, intrahepatic, of pregnancy 31 test
  • Chondrocalcinosis 21 test
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata 1, X-linked recessive2 tests
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondroectodermal dysplasia1 test
  • Chondrosarcoma1 test
  • Choreoacanthocytosis5 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress2 tests
  • Choroidal dystrophy, central areolar 22 tests
  • Choroideremia2 tests
  • CHRNA1-Related Congenital Myasthenic Syndrome1 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic lymphocytic leukemia1 test
  • Chudley-McCullough syndrome1 test
  • Chédiak-Higashi syndrome4 tests
  • Ciliary dyskinesia1 test
  • Ciliary dyskinesia, primary, 101 test
  • Ciliary dyskinesia, primary, 111 test
  • Ciliary dyskinesia, primary, 121 test
  • Ciliary dyskinesia, primary, 131 test
  • Ciliary dyskinesia, primary, 141 test
  • Ciliary dyskinesia, primary, 151 test
  • Ciliary dyskinesia, primary, 161 test
  • Ciliary dyskinesia, primary, 171 test
  • Ciliary dyskinesia, primary, 182 tests
  • Ciliary dyskinesia, primary, 192 tests
  • Ciliary dyskinesia, primary, 21 test
  • Ciliary dyskinesia, primary, 201 test
  • Ciliary dyskinesia, primary, 221 test
  • Ciliary dyskinesia, primary, 261 test
  • Ciliary dyskinesia, primary, 272 tests
  • Ciliary dyskinesia, primary, 291 test
  • Ciliary dyskinesia, primary, 31 test
  • Ciliary dyskinesia, primary, 301 test
  • Ciliary dyskinesia, primary, 41 test
  • Ciliary dyskinesia, primary, 51 test
  • Ciliary dyskinesia, primary, 62 tests
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 81 test
  • Ciliary dyskinesia, primary, 91 test
  • Cleidocranial dysostosis2 tests
  • CLN13 Disease1 test
  • CLN14 Disease1 test
  • Cockayne syndrome2 tests
  • Cockayne syndrome B3 tests
  • Cockayne syndrome type A3 tests
  • Coenzyme Q10 deficiency, primary2 tests
  • Coenzyme Q10 deficiency, primary 13 tests
  • Coenzyme Q10 deficiency, primary, 23 tests
  • Coenzyme Q10 deficiency, primary, 33 tests
  • Coenzyme Q10 deficiency, primary, 44 tests
  • Coenzyme Q10 deficiency, primary, 53 tests
  • Coenzyme Q10 deficiency, primary, 62 tests
  • COG7 congenital disorder of glycosylation1 test
  • Cognitive impairment with or without cerebellar ataxia1 test
  • Cohen syndrome3 tests
  • Cole disease1 test
  • Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy1 test
  • Coloboma of optic disc1 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined molybdoflavoprotein enzyme deficiency2 tests
  • Combined oxidative phosphorylation deficiency 12 tests
  • Combined oxidative phosphorylation deficiency 102 tests
  • Combined oxidative phosphorylation deficiency 122 tests
  • Combined oxidative phosphorylation deficiency 142 tests
  • Combined oxidative phosphorylation deficiency 162 tests
  • Combined oxidative phosphorylation deficiency 22 tests
  • Combined oxidative phosphorylation deficiency 32 tests
  • Combined oxidative phosphorylation deficiency 42 tests
  • Combined oxidative phosphorylation deficiency 52 tests
  • Combined oxidative phosphorylation deficiency 62 tests
  • Combined oxidative phosphorylation deficiency 74 tests
  • Combined oxidative phosphorylation deficiency 84 tests
  • Combined saposin deficiency2 tests
  • Common variable immunodeficiency 11 test
  • Complement component 3 deficiency, autosomal recessive1 test
  • Complement component 4, partial deficiency of1 test
  • Complement factor d deficiency1 test
  • Complete trisomy 21 syndrome2 tests
  • Cone dystrophy 31 test
  • Cone dystrophy 42 tests
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 11 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 131 test
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 161 test
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 32 tests
  • Cone-rod dystrophy 51 test
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 71 test
  • Cone-rod dystrophy 91 test
  • Cone-rod dystrophy X-linked 31 test
  • Cone-rod dystrophy, X-linked 11 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital aniridia1 test
  • Congenital bilateral absence of the vas deferens1 test
  • Congenital cataracts, hearing loss, and neurodegeneration1 test
  • Congenital defect of folate absorption3 tests
  • Congenital disorder of deglycosylation2 tests
  • Congenital disorder of glycosylation2 tests
  • Congenital disorder of glycosylation type 1B1 test
  • Congenital disorder of glycosylation type 1C2 tests
  • Congenital disorder of glycosylation type 1D1 test
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type 1F2 tests
  • Congenital disorder of glycosylation type 1H3 tests
  • Congenital disorder of glycosylation type 1I3 tests
  • Congenital disorder of glycosylation type 1J3 tests
  • Congenital disorder of glycosylation type 1K2 tests
  • Congenital disorder of glycosylation type 1M2 tests
  • Congenital disorder of glycosylation type 1N2 tests
  • Congenital disorder of glycosylation type 1O2 tests
  • Congenital disorder of glycosylation type 1P2 tests
  • Congenital disorder of glycosylation type 1Q2 tests
  • Congenital disorder of glycosylation type 1t1 test
  • Congenital disorder of glycosylation type 1u2 tests
  • Congenital disorder of glycosylation type 1w2 tests
  • Congenital disorder of glycosylation type 1x2 tests
  • Congenital disorder of glycosylation type 2C1 test
  • Congenital disorder of glycosylation type 2F1 test
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L1 test
  • Congenital disorder of glycosylation type Ir2 tests
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm3 tests
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital ectodermal dysplasia of face1 test
  • Congenital generalized lipodystrophy2 tests
  • Congenital generalized lipodystrophy type 24 tests
  • Congenital hydrocephalus 11 test
  • Congenital hypomyelinating neuropathy3 tests
  • Congenital ichthyosis of skin1 test
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
  • Congenital muscular dystrophy1 test
  • Congenital muscular dystrophy, LMNA-related1 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A72 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome1 test
  • Congenital myasthenic syndrome 132 tests
  • Congenital myasthenic syndrome 1B, fast-channel2 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive2 tests
  • Congenital myopathy1 test
  • Congenital myopathy with fiber type disproportion2 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital ocular coloboma1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness, autosomal dominant 12 tests
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B2 tests
  • Conotruncal anomaly face syndrome1 test
  • Conotruncal heart malformations2 tests
  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2 tests
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum, partial agenesis of, X-linked1 test
  • Cortical dysplasia, complex, with other brain malformations 15 tests
  • Cortical dysplasia, complex, with other brain malformations 25 tests
  • Cortical dysplasia, complex, with other brain malformations 34 tests
  • Cortical dysplasia, complex, with other brain malformations 44 tests
  • Cortisone reductase deficiency 21 test
  • Costello syndrome4 tests
  • Cowchock syndrome1 test
  • Cowden syndrome2 tests
  • Cowden syndrome 11 test
  • Coxa plana1 test
  • Cranioectodermal dysplasia3 tests
  • Cranioectodermal dysplasia 14 tests
  • Cranioectodermal dysplasia 24 tests
  • Cranioectodermal dysplasia 33 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofrontonasal dysplasia2 tests
  • Craniometaphyseal dysplasia, autosomal dominant1 test
  • Craniometaphyseal dysplasia, autosomal recessive type2 tests
  • Craniosynostosis1 test
  • Craniosynostosis 11 test
  • Craniosynostosis 21 test
  • Craniosynostosis 61 test
  • Craniosynostosis and dental anomalies1 test
  • Creatine deficiency, X-linked1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cryptophthalmos syndrome1 test
  • Culler-Jones syndrome1 test
  • Cushing's syndrome1 test
  • Cutaneous malignant melanoma 11 test
  • Cutaneous malignant melanoma 22 tests
  • Cutaneous malignant melanoma 31 test
  • Cutaneous malignant melanoma 51 test
  • Cutaneous malignant melanoma 81 test
  • Cutis Gyrata syndrome of Beare and Stevenson1 test
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, X-linked6 tests
  • Cutis laxa-corneal clouding-oligophrenia syndrome4 tests
  • Cyclical neutropenia2 tests
  • Cystic fibrosis1 test
  • Cystinuria1 test
  • Czech dysplasia metatarsal type1 test
  • Dandy-Walker syndrome1 test
  • Danon disease3 tests
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 561 test
  • Deafness, autosomal dominant nonsyndromic sensorineural 171 test
  • Deafness, autosomal recessive 1A3 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 311 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 91 test
  • Deafness, nonsyndromic sensorineural, mitochondrial1 test
  • Deafness, X-linked 11 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Dejerine-Sottas disease3 tests
  • Dementia familial British3 tests
  • Dementia, familial Danish3 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease 21 test
  • Dent's disease1 test
  • Dentatorubral pallidoluysian atrophy1 test
  • Desbuquois dysplasia 12 tests
  • Desbuquois dysplasia 22 tests
  • Desmosterolosis3 tests
  • DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss1 test
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness1 test
  • Diabetes mellitus type 22 tests
  • Diabetes mellitus, insulin-dependent, 201 test
  • Diamond-Blackfan anemia 11 test
  • Diaphanospondylodysostosis1 test
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma1 test
  • Diastrophic dysplasia1 test
  • DiGeorge sequence3 tests
  • DiGeorge syndrome/velocardiofacial syndrome complex 21 test
  • Digital Arthropathy-Brachydactyly2 tests
  • Digital arthropathy-brachydactyly, familial2 tests
  • Dihydropteridine reductase deficiency3 tests
  • Dilated cardiomyopathy 1F1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1V4 tests
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma2 tests
  • Disorder of cardiovascular system2 tests
  • Disseminated atypical mycobacterial infection1 test
  • Distal arthrogryposis type 1A1 test
  • Distal arthrogryposis type 2B2 tests
  • Distal hereditary motor neuronopathy type 2A2 tests
  • Distal hereditary motor neuronopathy type 2B2 tests
  • Distal hereditary motor neuronopathy type 2C2 tests
  • Distal hereditary motor neuronopathy type 56 tests
  • Distal hereditary motor neuronopathy type 5B2 tests
  • Distal hereditary motor neuronopathy type 7B7 tests
  • Distal myopathy Markesbery-Griggs type2 tests
  • Distal myopathy, Tateyama type1 test
  • Distal spinal muscular atrophy, autosomal recessive 43 tests
  • Distal spinal muscular atrophy, congenital nonprogressive4 tests
  • Distal spinal muscular atrophy, X-linked 31 test
  • Dominant Dystrophic Epidermolysis Bullosa1 test
  • Dominant hereditary optic atrophy1 test
  • Double outlet right ventricle1 test
  • Dowling-Degos disease 11 test
  • Doyne honeycomb retinal dystrophy1 test
  • Duane syndrome type 21 test
  • Duane-radial ray syndrome2 tests
  • Duchenne muscular dystrophy2 tests
  • Duffy Blood group system1 test
  • Dysequilibrium syndrome1 test
  • Dysfibrinogenemia, congenital1 test
  • Dyskeratosis congenita2 tests
  • Dyskeratosis congenita autosomal dominant3 tests
  • Dyskeratosis congenita autosomal recessive 12 tests
  • Dyskeratosis congenita X-linked5 tests
  • Dyskeratosis congenita, autosomal recessive 22 tests
  • Dyskeratosis congenita, autosomal recessive, 32 tests
  • Dyskeratosis congenita, autosomal recessive, 52 tests
  • Dyskinesia, familial, with facial myokymia1 test
  • Dystonia 13 tests
  • Dystonia 104 tests
  • Dystonia 126 tests
  • Dystonia 163 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 26, myoclonic1 test
  • Dystonia 271 test
  • Dystonia 3, torsion, X-linked3 tests
  • Dystonia 5, Dopa-responsive type6 tests
  • Dystonia 6, torsion3 tests
  • Dystonia 93 tests
  • Dystrophic epidermolysis bullosa1 test
  • Early infantile epileptic encephalopathy1 test
  • Early infantile epileptic encephalopathy 102 tests
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 132 tests
  • Early infantile epileptic encephalopathy 142 tests
  • Early infantile epileptic encephalopathy 152 tests
  • Early infantile epileptic encephalopathy 161 test
  • Early infantile epileptic encephalopathy 172 tests
  • Early infantile epileptic encephalopathy 182 tests
  • Early infantile epileptic encephalopathy 22 tests
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 341 test
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 71 test
  • Early infantile epileptic encephalopathy 83 tests
  • Early infantile epileptic encephalopathy 92 tests
  • Early myoclonic encephalopathy2 tests
  • Early-Onset Familial Alzheimer Disease3 tests
  • Ectodermal dysplasia skin fragility syndrome2 tests
  • Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema1 test
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 11 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • EEM syndrome3 tests
  • Ehlers-Danlos syndrome progeroid type3 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss3 tests
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, type 32 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Ehlers-Danlos syndrome, type 7A2 tests
  • Ehlers-Danlos syndrome, type 7B2 tests
  • Ehlers-Danlos syndrome, type vii, autosomal recessive2 tests
  • Ehlers-Danlos-like syndrome due to tenascin-X deficiency2 tests
  • Eichsfeld type congenital muscular dystrophy2 tests
  • Eiken skeletal dysplasia1 test
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
  • Encephalopathy, progressive, with or without lipodystrophy2 tests
  • Endometrial carcinoma1 test
  • Endplate acetylcholinesterase deficiency1 test
  • Enhanced s-cone syndrome1 test
  • Enlarged vestibular aqueduct3 tests
  • Epidermal nevus1 test
  • Epidermal nevus syndrome2 tests
  • EPIDERMODYSPLASIA VERRUCIFORMIS1 test
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy4 tests
  • Epidermolysis bullosa herpetiformis, Dowling-Meara2 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia1 test
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema2 tests
  • Epidermolysis bullosa simplex with mottled pigmentation2 tests
  • Epidermolysis bullosa simplex with pyloric atresia2 tests
  • Epidermolysis bullosa simplex, autosomal recessive1 test
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, Cockayne-Touraine type2 tests
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epidermolysis bullosa, junctional1 test
  • Epidermolysis bullosa, lethal acantholytic1 test
  • Epidermolysis bullosa, nonspecific, autosomal recessive1 test
  • Epilepsy juvenile absence1 test
  • Epilepsy with grand mal seizures on awakening1 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence 41 test
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, childhood absence 61 test
  • Epilepsy, familial focal, with variable foci 11 test
  • Epilepsy, familial temporal lobe, 51 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation2 tests
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epilepsy, idiopathic generalized 81 test
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 141 test
  • Epilepsy, juvenile absence 22 tests
  • Epilepsy, lateral temporal lobe, autosomal dominant2 tests
  • Epilepsy, nocturnal frontal lobe, 51 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 33 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
  • Epilepsy, progressive myoclonic 52 tests
  • Epilepsy, progressive myoclonic 64 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epileptic encephalopathy, childhood-onset1 test
  • Epileptic encephalopathy, early infantile, 12 tests
  • Epileptic encephalopathy, early infantile, 192 tests
  • Epileptic encephalopathy, early infantile, 231 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness2 tests
  • Episodic ataxia type 15 tests
  • Episodic Ataxia Type 101 test
  • Episodic Ataxia Type 111 test
  • Episodic Ataxia Type 121 test
  • Episodic ataxia type 24 tests
  • Episodic Ataxia Type 91 test
  • Episodic ataxia, type 54 tests
  • Episodic ataxia, type 64 tests
  • Episodic ataxia, type 71 test
  • Episodic ataxia, type 81 test
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • ERCC1-Related Xeroderma Pigmentosum3 tests
  • Erythrocytosis, familial, 21 test
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige3 tests
  • Erythrokeratodermia variabilis1 test
  • Erythrokeratodermia with ataxia1 test
  • Ethylmalonic encephalopathy1 test
  • Exudative vitreoretinopathy 12 tests
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 52 tests
  • Fabry disease3 tests
  • Facial dysmorphism, immunodeficiency, livedo, and short stature2 tests
  • Facioscapulohumeral muscular dystrophy1 test
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor H deficiency1 test
  • Factor V deficiency2 tests
  • Factor X deficiency1 test
  • Factor XII deficiency disease2 tests
  • Factor XIII subunit A deficiency1 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial fibrillation1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast3 tests
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 33 tests
  • Familial cold autoinflammatory syndrome 41 test
  • Familial cold urticaria3 tests
  • Familial colorectal cancer1 test
  • Familial dysautonomia1 test
  • Familial Episodic Pain Syndrome 41 test
  • Familial Episodic Pain Syndrome 51 test
  • Familial Episodic Pain Syndrome 61 test
  • Familial Episodic Pain Syndrome 71 test
  • Familial Episodic Pain Syndrome 81 test
  • Familial erythrocytosis, 12 tests
  • Familial exudative vitreoretinopathy, autosomal dominant1 test
  • Familial exudative vitreoretinopathy, X-linked2 tests
  • Familial febrile seizures 82 tests
  • Familial gynecomastia, due to increased aromatase activity1 test
  • Familial hemiplegic migraine1 test
  • Familial hemiplegic migraine type 13 tests
  • Familial hemiplegic migraine type 22 tests
  • Familial hemiplegic migraine type 32 tests
  • Familial hemophagocytic lymphohistiocytosis 12 tests
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia2 tests
  • Familial hyperkalemic periodic paralysis2 tests
  • Familial hypertrophic cardiomyopathy 12 tests
  • Familial hypertrophic cardiomyopathy 101 test
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 191 test
  • Familial hypertrophic cardiomyopathy 22 tests
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 81 test
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypoalphalipoproteinemia1 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial infantile myasthenia1 test
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant1 test
  • Familial multiple polyposis syndrome1 test
  • Familial normokalemic periodic paralysis1 test
  • Familial pancreatic carcinoma1 test
  • Familial periodic paralysis2 tests
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial porencephaly2 tests
  • Familial renal glucosuria1 test
  • Familial restrictive cardiomyopathy1 test
  • Familial restrictive cardiomyopathy 11 test
  • Familial restrictive cardiomyopathy 32 tests
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets3 tests
  • Fanconi anemia1 test
  • Fanconi anemia, complementation group A2 tests
  • Fanconi anemia, complementation group B1 test
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D11 test
  • Fanconi anemia, complementation group D21 test
  • Fanconi anemia, complementation group E1 test
  • Fanconi anemia, complementation group F1 test
  • Fanconi anemia, complementation group G1 test
  • Fanconi anemia, complementation group I1 test
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group L1 test
  • Fanconi anemia, complementation group M1 test
  • Fanconi anemia, complementation group N2 tests
  • Fanconi anemia, complementation group O1 test
  • Fanconi anemia, complementation group P1 test
  • Fanconi anemia, complementation group Q3 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fanconi-Bickel syndrome1 test
  • Farber disease4 tests
  • Fatal familial insomnia4 tests
  • Feingold syndrome 11 test
  • FG syndrome1 test
  • FG syndrome 21 test
  • FGFR2 related craniosynostosis1 test
  • Fibrochondrogenesis1 test
  • Fibrochondrogenesis 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Fibrous dysplasia of jaw1 test
  • Fibular hypoplasia and complex brachydactyly1 test
  • Fleck retina, familial benign1 test
  • Floating-Harbor syndrome1 test
  • Focal cortical dysplasia type II1 test
  • Focal epilepsy1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal Segmental Glomerulosclerosis 101 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 31 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 71 test
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Follicle-stimulating hormone deficiency, isolated1 test
  • Foveal hypoplasia and presenile cataract syndrome3 tests
  • FOXE3-Related Cataracts, Autosomal Dominant1 test
  • Frank Ter Haar syndrome1 test
  • Freeman-Sheldon syndrome1 test
  • Friedreich ataxia 11 test
  • Friedreich's ataxia1 test
  • Frontometaphyseal dysplasia1 test
  • Frontonasal dysplasia 21 test
  • Frontotemporal dementia7 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 24 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
  • Frontotemporal Dementia, Chromosome 3-Linked5 tests
  • Frontotemporal dementia, ubiquitin-positive4 tests
  • Fuhrmann syndrome2 tests
  • Fukuyama congenital muscular dystrophy1 test
  • Galactosylceramide beta-galactosidase deficiency8 tests
  • Galloway-Mowat syndrome 11 test
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
  • Gangliosidosis GM1 type 33 tests
  • GARS-Associated Axonal Neuropathy2 tests
  • Gastrointestinal stroma tumor2 tests
  • GATA-1-related thrombocytopenia with dyserythropoiesis1 test
  • Gaucher disease5 tests
  • Gaucher disease type 3C1 test
  • Gaucher disease, atypical, due to saposin C deficiency2 tests
  • Gaucher disease, perinatal lethal1 test
  • Gaucher's disease, type 11 test
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Geleophysic dysplasia 11 test
  • Geleophysic dysplasia 21 test
  • Generalized epilepsy and paroxysmal dyskinesia5 tests
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 12 tests
  • Generalized epilepsy with febrile seizures plus, type 22 tests
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Genetic prion diseases3 tests
  • Germ cell tumor1 test
  • Geroderma osteodysplastica1 test
  • Gerstmann-Straussler-Scheinker syndrome4 tests
  • Ghosal syndrome1 test
  • Giant axonal neuropathy1 test
  • Gilbert's syndrome1 test
  • Gillespie syndrome3 tests
  • GJB3-Related Erythrokeratodermia Variabilis1 test
  • GJB4-Related Erythrokeratodermia Variabilis1 test
  • GJC2-Related Disorders2 tests
  • Glaucoma 1, open angle, e2 tests
  • GLB1-Related Disorders3 tests
  • Glucocorticoid deficiency with achalasia1 test
  • Glucose-6-phosphate transport defect1 test
  • GLUT1 deficiency syndrome 14 tests
  • GLUT1 deficiency syndrome 23 tests
  • Glutamine deficiency, congenital1 test
  • Glutaric acidemia2 tests
  • Glutaric aciduria, type 14 tests
  • Glutaric aciduria, type 24 tests
  • Glutaryl-CoA oxidase deficiency1 test
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
  • Gluthathione synthetase deficiency1 test
  • Glycogen phosphorylase kinase deficiency1 test
  • Glycogen storage disease1 test
  • Glycogen storage disease 0, muscle1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease of heart, lethal congenital1 test
  • Glycogen storage disease type 131 test
  • Glycogen storage disease type 1A4 tests
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII1 test
  • GM1 gangliosidosis2 tests
  • GM1 gangliosidosis type 23 tests
  • Gnathodiaphyseal dysplasia1 test
  • Gonadotropin-independent familial sexual precocity1 test
  • Gorlin syndrome3 tests
  • Gracile bone dysplasia1 test
  • Grebe syndrome2 tests
  • Greenberg dysplasia2 tests
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 13 tests
  • Griscelli syndrome type 23 tests
  • Griscelli syndrome type 31 test
  • GTDC2-Related Muscle Diseases1 test
  • GTP cyclohydrolase I deficiency4 tests
  • Guillain-Barre syndrome, familial1 test
  • Hb SS disease1 test
  • Hearing Loss/Deafness3 tests
  • Hemangioma, capillary infantile1 test
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2A2 tests
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 42 tests
  • Hemophagocytic lymphohistiocytosis, familial, 22 tests
  • Hemophagocytic lymphohistiocytosis, familial, 31 test
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hennekam lymphangiectasia-lymphedema syndrome1 test
  • Hepatic adenomas, familial1 test
  • Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency3 tests
  • Hepatic venoocclusive disease with immunodeficiency1 test
  • Hereditary angioedema type 12 tests
  • Hereditary angioneurotic edema1 test
  • Hereditary angioneurotic edema with normal C1 esterase inhibitor activity2 tests
  • Hereditary breast and ovarian cancer syndrome2 tests
  • Hereditary diffuse gastric cancer1 test
  • Hereditary diffuse leukoencephalopathy with spheroids6 tests
  • Hereditary disease2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary hemorrhagic telangiectasia type 22 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary myopathy with early respiratory failure1 test
  • Hereditary nephrotic syndrome1 test
  • Hereditary neuroendocrine tumor of small intestine1 test
  • Hereditary ovarian carcinoma1 test
  • Hereditary pancreatitis4 tests
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes1 test
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary sensory and autonomic neuropathy type II1 test
  • Hereditary sensory and autonomic neuropathy type IIA1 test
  • Hereditary sensory and autonomic neuropathy type IIB1 test
  • Hereditary sensory and autonomic neuropathy type IIC3 tests
  • Hereditary sensory neuropathy type 1D3 tests
  • Hereditary sensory neuropathy type IE1 test
  • Hereditary sideroblastic anemia1 test
  • Hereditary spastic paraplegia1 test
  • Hermansky Pudlak syndrome 24 tests
  • Hermansky-Pudlak syndrome2 tests
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 101 test
  • Hermansky-Pudlak Syndrome 111 test
  • Hermansky-Pudlak Syndrome 121 test
  • Hermansky-Pudlak Syndrome 131 test
  • Hermansky-Pudlak Syndrome 141 test
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Herpes simplex encephalitis 11 test
  • Herpes simplex encephalitis 21 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Heterotaxia1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, X-linked1 test
  • Heterotopia, periventricular, autosomal recessive1 test
  • Hexosaminidase A deficiency, adult type5 tests
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • Hirschsprung disease 11 test
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • HNSHA due to aldolase A deficiency1 test
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 23 tests
  • Holoprosencephaly 33 tests
  • Holoprosencephaly 43 tests
  • Holoprosencephaly 53 tests
  • Holoprosencephaly 62 tests
  • Holoprosencephaly 73 tests
  • Holoprosencephaly 82 tests
  • Holoprosencephaly 93 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome2 tests
  • Homocysteinemia due to MTHFR deficiency1 test
  • Huntington disease-like 14 tests
  • Huntington disease-like 23 tests
  • Huntington's chorea2 tests
  • Hutchinson-Gilford syndrome1 test
  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies1 test
  • Hyperekplexia1 test
  • Hyperekplexia 21 test
  • Hyperekplexia 32 tests
  • Hyperekplexia hereditary3 tests
  • Hyperferritinemia cataract syndrome7 tests
  • Hyperglycinuria2 tests
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperimmunoglobulin E syndrome2 tests
  • Hyperinsulinemic hypoglycemia familial 31 test
  • Hyperkalemic Periodic Paralysis Type 13 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4 tests
  • Hyperphenylalaninemia, BH4-deficient, D1 test
  • Hyperphenylalaninemia, non-pku1 test
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperthyroidism, familial gestational1 test
  • Hyperthyroidism, nonautoimmune1 test
  • Hypocalcemia, autosomal dominant 11 test
  • Hypocalcemia, autosomal dominant 21 test
  • Hypocalciuric hypercalcemia, familial, type 12 tests
  • Hypocalciuric hypercalcemia, familial, type II1 test
  • Hypocalciuric hypercalcemia, familial, type III2 tests
  • Hypochondroplasia2 tests
  • Hypoglycemia with deficiency of glycogen synthetase in the liver1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypohidrotic ectodermal dysplasia1 test
  • Hypohidrotic ectodermal dysplasia with immune deficiency2 tests
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis2 tests
  • Hypokalemic periodic paralysis 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia 4, renal1 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
  • Hypoparathyroidism familial isolated1 test
  • Hypophosphatasia2 tests
  • Hypophosphatemic Rickets Disorders3 tests
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive2 tests
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic left heart syndrome 12 tests
  • Hypoplastic left heart syndrome 22 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 11 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypotrichosis 21 test
  • Hypotrichosis 61 test
  • Hypotrichosis 81 test
  • Hypotrichosis simplex1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hystrix-like ichthyosis with deafness2 tests
  • I blood group system2 tests
  • I cell disease1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation1 test
  • Ichthyosis, Spastic Qudraplegia and Mental Retardation3 tests
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic hypereosinophilic syndrome1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Iminoglycinuria2 tests
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
  • Immunodeficiency 131 test
  • Immunodeficiency 141 test
  • Immunodeficiency 181 test
  • Immunodeficiency 27b1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 31a1 test
  • Immunodeficiency 31C1 test
  • Immunodeficiency 32a1 test
  • Immunodeficiency 38 with basal ganglia calcification1 test
  • Immunodeficiency 511 test
  • Immunodeficiency 81 test
  • Immunodeficiency with hyper IgM type 11 test
  • Immunodeficiency with hyper IgM type 21 test
  • Immunodeficiency with hyper IgM type 31 test
  • Immunodeficiency with hyper IgM type 41 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia1 test
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunoglobulin kappa light chain deficiency1 test
  • Inclusion body myopathy 23 tests
  • Inclusion body myopathy 31 test
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia6 tests
  • Incontinentia pigmenti syndrome1 test
  • Indifference to pain, congenital, autosomal recessive1 test
  • Infantile convulsions and paroxysmal choreoathetosis, familial3 tests
  • Infantile cortical hyperostosis1 test
  • Infantile GM1 gangliosidosis3 tests
  • Infantile hypophosphatasia1 test
  • Infantile liver failure syndrome 11 test
  • Infantile myofibromatosis 11 test
  • Infantile myofibromatosis 21 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy7 tests
  • Infantile Parkinsonism-dystonia3 tests
  • Infantile Refsum's disease2 tests
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Intermediate Charcot-Marie-Tooth Neuropathy1 test
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Intestinal pseudoobstruction neuronal chronic idiopathic X-linked1 test
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
  • Invasive pneumococcal disease, recurrent isolated, 11 test
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • IQCB1-Related Leber Congenital Amaurosis1 test
  • IRAK4 deficiency1 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Iridogoniodysgenesis, dominant type1 test
  • Ischemic stroke1 test
  • Isolated 17-Linked Lissencephaly2 tests
  • Isolated lutropin deficiency1 test
  • Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
  • IVIC syndrome1 test
  • Jackson-Weiss syndrome1 test
  • Jakob-Creutzfeldt disease4 tests
  • Jankovic Rivera syndrome1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Jeune thoracic dystrophy1 test
  • Joubert syndrome 15 tests
  • Joubert syndrome 105 tests
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 164 tests
  • Joubert syndrome 174 tests
  • Joubert syndrome 184 tests
  • Joubert syndrome 25 tests
  • Joubert syndrome 204 tests
  • Joubert syndrome 36 tests
  • Joubert syndrome 46 tests
  • Joubert syndrome 55 tests
  • Joubert syndrome 65 tests
  • Joubert syndrome 75 tests
  • Joubert syndrome 85 tests
  • Joubert syndrome 95 tests
  • Joubert Syndrome and Related Disorders4 tests
  • Junctional epidermolysis bullosa gravis of Herlitz1 test
  • Juvenile (Subacute) Hexosaminidase A Deficiency5 tests
  • Juvenile hemochromatosis1 test
  • Juvenile macular degeneration and hypotrichosis1 test
  • Juvenile myelomonocytic leukemia2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile neuronal ceroid lipofuscinosis4 tests
  • Juvenile polyposis syndrome1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile primary lateral sclerosis1 test
  • Juvenile retinoschisis2 tests
  • Kallmann syndrome 51 test
  • Kallmann syndrome 61 test
  • Kartagener syndrome2 tests
  • Kenny-Caffey syndrome type 11 test
  • Kenny-Caffey syndrome type 21 test
  • Keratitis, hereditary1 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant2 tests
  • Keratoderma palmoplantar deafness1 test
  • Keratosis follicularis1 test
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma1 test
  • Keratosis Palmoplantaris Striata I, AD1 test
  • Keutel syndrome1 test
  • Kindler's syndrome1 test
  • Klein-Waardenberg's syndrome1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive2 tests
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome 11 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Kohlschutter's syndrome1 test
  • Krabbe disease atypical due to Saposin A deficiency2 tests
  • L-2-hydroxyglutaric aciduria5 tests
  • L-ferritin deficiency1 test
  • L1 syndrome1 test
  • Lafora disease5 tests
  • Lamellar cataract2 tests
  • Laron-type isolated somatotropin defect1 test
  • Late-onset retinal degeneration1 test
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 102 tests
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 72 tests
  • Leber congenital amaurosis 82 tests
  • Leber congenital amaurosis 91 test
  • Leber's optic atrophy5 tests
  • Left ventricular noncompaction1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 101 test
  • Left Ventricular Noncompaction 3, with or without Dilated Cardiomyopathy1 test
  • Left ventricular noncompaction 41 test
  • Left ventricular noncompaction 51 test
  • Left ventricular noncompaction 62 tests
  • Left ventricular noncompaction 91 test
  • Left Ventricular Outflow Tract Obstruction (LVOTO)1 test
  • Left-right axis malformations1 test
  • Legius syndrome6 tests
  • Leigh syndrome1 test
  • Leigh Syndrome (mtDNA mutation)1 test
  • Leigh Syndrome (nuclear DNA mutation)4 tests
  • Lenz microphthalmia syndrome1 test
  • Lenz-Majewski hyperostosis syndrome3 tests
  • LEOPARD syndrome 15 tests
  • LEOPARD syndrome 24 tests
  • LEOPARD syndrome 34 tests
  • Leptin deficiency or dysfunction1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal arthrogryposis with anterior horn cell disease1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal multiple pterygium syndrome2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leukocyte adhesion deficiency type 12 tests
  • Leukodystrophy, adult-onset, autosomal dominant2 tests
  • Leukodystrophy, hypomyelinating 33 tests
  • Leukodystrophy, hypomyelinating, 25 tests
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukodystrophy, hypomyelinating, 67 tests
  • Leukoencephalopathy with Ataxia due to ClC-2 Deficiency3 tests
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation3 tests
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1 test
  • Leukoencephalopathy with dystonia and motor neuropathy2 tests
  • Leukoencephalopathy with vanishing white matter3 tests
  • Leukoencephalopathy, cystic, without megalencephaly4 tests
  • Levy-Hollister syndrome5 tests
  • Lewy body dementia3 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome2 tests
  • Li-Fraumeni syndrome 21 test
  • Lig4 syndrome2 tests
  • Limb-Girdle Muscular Dystrophies, Autosomal Dominant1 test
  • Limb-girdle muscular dystrophy1 test
  • Limb-girdle muscular dystrophy, autosomal recessive1 test
  • Limb-girdle muscular dystrophy, type 1A1 test
  • Limb-girdle muscular dystrophy, type 1B1 test
  • Limb-girdle muscular dystrophy, type 1C1 test
  • Limb-girdle muscular dystrophy, type 1E1 test
  • Limb-girdle muscular dystrophy, type 1F1 test
  • Limb-girdle muscular dystrophy, type 1G1 test
  • Limb-girdle muscular dystrophy, type 1H1 test
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy, type 2B2 tests
  • Limb-girdle muscular dystrophy, type 2G1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L1 test
  • Limb-girdle muscular dystrophy, type 2Q2 tests
  • Limb-girdle muscular dystrophy, type 2S1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C31 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lipoprotein glomerulopathy1 test
  • Lissencephaly2 tests
  • Lissencephaly 11 test
  • Lissencephaly 23 tests
  • Lissencephaly 2, X-linked3 tests
  • Lissencephaly 33 tests
  • Lissencephaly 44 tests
  • Lissencephaly, X-linked3 tests
  • Localized epidermolytic hyperkeratosis1 test
  • Loeys-Dietz syndrome2 tests
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Long QT syndrome1 test
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 132 tests
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 52 tests
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Lowe syndrome1 test
  • Lung cancer2 tests
  • Lymphangiomyomatosis2 tests
  • Lymphedema praecox1 test
  • Lymphedema, hereditary, IC4 tests
  • Lymphedema, hereditary, ID1 test
  • Lymphedema, primary, with myelodysplasia2 tests
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome1 test
  • Lynch syndrome I2 tests
  • Lynch syndrome II1 test
  • Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
  • Macrocephaly/autism syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular corneal dystrophy Type I1 test
  • Macular degeneration, X-linked atrophic1 test
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Majeed syndrome2 tests
  • Malignant eosinophil proliferation1 test
  • Malignant hyperthermia susceptibility1 test
  • Malignant hyperthermia susceptibility type 21 test
  • Malignant hyperthermia susceptibility type 31 test
  • Malignant hyperthermia susceptibility type 41 test
  • Malignant hyperthermia susceptibility type 51 test
  • Malignant hyperthermia susceptibility type 61 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant melanoma of skin1 test
  • Malignant tumor of esophagus1 test
  • Malignant tumor of prostate2 tests
  • Malignant tumor of testis2 tests
  • Maple syrup urine disease3 tests
  • Maple syrup urine disease, mild variant1 test
  • Maple syrup urine disease, type 31 test
  • Marfan syndrome2 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
  • Marinesco-Sjögren syndrome3 tests
  • Marles Greenberg Persaud syndrome2 tests
  • Marshall syndrome1 test
  • Marshall-Smith syndrome1 test
  • Martsolf syndrome1 test
  • Mast cell disease, systemic1 test
  • Mast syndrome3 tests
  • Maturity-onset diabetes of the young, type 11 test
  • Maturity-onset diabetes of the young, type 21 test
  • Maturity-onset diabetes of the young, type 31 test
  • McCune-Albright syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome type 11 test
  • Meckel syndrome type 22 tests
  • Meckel syndrome type 32 tests
  • Meckel syndrome type 42 tests
  • Meckel syndrome type 52 tests
  • Meckel syndrome type 62 tests
  • Meckel syndrome type 72 tests
  • Meckel syndrome type 81 test
  • Meckel syndrome, type 102 tests
  • Meckel syndrome, type 92 tests
  • Meckel-Gruber syndrome2 tests
  • MEDNIK Syndrome1 test
  • Medulloblastoma2 tests
  • Meesman's corneal dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts7 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a3 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 25 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, Somatic4 tests
  • Megaloblastic anemia due to inborn errors of metabolism1 test
  • Meier-Gorlin syndrome1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Melanoma astrocytoma syndrome1 test
  • Melanoma-pancreatic cancer syndrome1 test
  • Melnick-Fraser syndrome1 test
  • Melnick-Needles syndrome1 test
  • Meningioma, familial2 tests
  • Menkes kinky-hair syndrome5 tests
  • Mental retardation 21, X-linked1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia3 tests
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 291 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal dominant 92 tests
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
  • Mental retardation, with or without seizures, ARX-related, X-linked1 test
  • Mental retardation, X-linked 11 test
  • Mental retardation, X-linked, syndromic 101 test
  • Mental retardation, X-linked, syndromic 131 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Mental retardation-hypotonic facies syndrome X-linked, 11 test
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • MERRF/MELAS overlap syndrome1 test
  • Metachondromatosis2 tests
  • Metachromatic leukodystrophy8 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type3 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatrophic dysplasia4 tests
  • Mevalonic aciduria1 test
  • Michels syndrome1 test
  • Microcephalic osteodysplastic primordial dwarfism type 23 tests
  • Microcephaly with mental retardation and digital anomalies1 test
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
  • Microcephaly with Polymicrogyria2 tests
  • Microcephaly, cortical malformations, and mental retardation2 tests
  • Microcephaly, epilepsy, and diabetes syndrome2 tests
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy1 test
  • Microcephaly-capillary malformation syndrome3 tests
  • Microhydranencephaly2 tests
  • Microlissencephaly2 tests
  • Microphthalmia syndromic 52 tests
  • Microphthalmia syndromic 61 test
  • Microphthalmia syndromic 91 test
  • Microphthalmia with Coloboma 51 test
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
  • Migraine, with or without aura 131 test
  • Miller Dieker syndrome2 tests
  • Mirror movements 11 test
  • Mirror movements 21 test
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex II deficiency1 test
  • Mitochondrial complex III deficiency2 tests
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
  • Mitochondrial diseases1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)5 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 23 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type6 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)3 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2 tests
  • Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
  • Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial myopathy with diabetes1 test
  • Mitochondrial phosphate carrier deficiency2 tests
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • MLH3-Related Lynch Syndrome1 test
  • Mohr-Tranebjaerg syndrome3 tests
  • Molybdenum Cofactor Deficiency A2 tests
  • Molybdenum cofactor deficiency, complementation group A1 test
  • Molybdenum cofactor deficiency, complementation group C3 tests
  • Mowat-Wilson syndrome1 test
  • Moyamoya disease 51 test
  • MTHFR deficiency, thermolabile type1 test
  • Mucolipidosis III Gamma1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type I2 tests
  • Mucopolysaccharidosis type VI2 tests
  • Mucopolysaccharidosis type VII3 tests
  • Mucopolysaccharidosis, MPS-II3 tests
  • Mucopolysaccharidosis, MPS-III-A3 tests
  • Mucopolysaccharidosis, MPS-III-B3 tests
  • Mucopolysaccharidosis, MPS-III-C3 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B6 tests
  • Muenke syndrome2 tests
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiminicore Disease1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
  • Multiple congenital exostosis1 test
  • Multiple Cutaneous and Mucosal Venous Malformations1 test
  • Multiple cutaneous leiomyomas1 test
  • Multiple endocrine neoplasia, type 11 test
  • Multiple epiphyseal dysplasia 12 tests
  • Multiple epiphyseal dysplasia 22 tests
  • Multiple epiphyseal dysplasia 32 tests
  • Multiple epiphyseal dysplasia 42 tests
  • Multiple epiphyseal dysplasia 53 tests
  • Multiple epiphyseal dysplasia 62 tests
  • Multiple Epiphyseal Dysplasia, Dominant1 test
  • Multiple exostoses type 21 test
  • Multiple gastrointestinal atresias1 test
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple sulfatase deficiency1 test
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
  • Muscular dystrophy, congenital, megaconial type2 tests
  • Muscular dystrophy, limb-girdle, type 2R1 test
  • Muscular dystrophy-dystroglycanopathy2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 121 test
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
  • Mutilating keratoderma2 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 151 test
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency3 tests
  • Myasthenic syndrome, slow-channel congenital3 tests
  • Myd88 deficiency1 test
  • Myelodysplastic syndrome2 tests
  • Myelofibrosis2 tests
  • MYH-associated polyposis1 test
  • Myhre syndrome1 test
  • Myoclonic dystonia4 tests
  • Myoclonic epilepsy myopathy sensory ataxia5 tests
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myoclonus, familial cortical1 test
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 12 tests
  • Myofibrillar myopathy, BAG3-related2 tests
  • Myofibrillar myopathy, ZASP-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myokymia 1 with or without hypomagnesemia2 tests
  • Myopathy with lactic acidosis, hereditary2 tests
  • Myopathy with postural muscle atrophy, X-linked2 tests
  • Myopathy with tubular aggregates1 test
  • Myopathy, centronuclear, 11 test
  • Myopathy, centronuclear, 31 test
  • Myopathy, centronuclear, 41 test
  • Myopathy, congenital, compton-north1 test
  • Myopathy, distal, 12 tests
  • Myopathy, distal, 41 test
  • Myopathy, distal, with anterior tibial onset1 test
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, isolated mitochondrial, autosomal dominant1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 11 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2 tests
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopathy, tubular aggregate, 21 test
  • Myopathy, X-linked, with excessive autophagy1 test
  • Myosclerosis, autosomal recessive1 test
  • Myosin storage myopathy2 tests
  • Myotilinopathy1 test
  • Myotonia congenita1 test
  • Nager syndrome1 test
  • Nail-patella syndrome2 tests
  • Nakajo syndrome1 test
  • Nance-Horan syndrome1 test
  • Narcolepsy 11 test
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect2 tests
  • Navajo neurohepatopathy1 test
  • Naxos disease3 tests
  • Nemaline myopathy1 test
  • Nemaline myopathy 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 32 tests
  • Nemaline myopathy 42 tests
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 81 test
  • Neonatal adrenoleucodystrophy1 test
  • Neonatal severe hyperparathyroidism2 tests
  • Neoplasm of ovary1 test
  • Neoplasm of stomach2 tests
  • Nephrogenic diabetes insipidus1 test
  • Nephrogenic diabetes insipidus, autosomal2 tests
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 12 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 111 test
  • Nephronophthisis 124 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 144 tests
  • Nephronophthisis 161 test
  • Nephronophthisis 171 test
  • Nephronophthisis 181 test
  • Nephronophthisis 191 test
  • Nephronophthisis 201 test
  • Nephronophthisis 211 test
  • Nephronophthisis 221 test
  • Nephronophthisis 231 test
  • Nephronophthisis 241 test
  • Nephronophthisis 251 test
  • Nephronophthisis 261 test
  • Nephronophthisis 271 test
  • Nephronophthisis 42 tests
  • Nephronophthisis 81 test
  • Nephropathy with pretibial epidermolysis bullosa and deafness1 test
  • Nephrotic syndrome, type 72 tests
  • Nestor-Guillermo progeria syndrome1 test
  • Netherton syndrome2 tests
  • Neural tube defects, folate-sensitive2 tests
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 2b1 test
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy6 tests
  • Neurofibromatosis, familial spinal6 tests
  • Neurofibromatosis, type 16 tests
  • Neurofibromatosis, type 23 tests
  • Neurofibromatosis-Noonan syndrome6 tests
  • Neuromyotonia and axonal neuropathy, autosomal recessive1 test
  • Neuronal ceroid lipofuscinosis2 tests
  • Neuronopathy, distal hereditary motor, type viia1 test
  • Neuropathy hereditary sensory and autonomic type 12 tests
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • Neuropathy, hereditary sensory and autonomic, type VI1 test
  • Neuropathy, hereditary sensory and autonomic, type VII1 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
  • Neutral lipid storage disease with myopathy1 test
  • Neutrophil immunodeficiency syndrome1 test
  • Newfoundland rod-cone dystrophy1 test
  • Niemann-Pick disease type C14 tests
  • Niemann-Pick disease type C24 tests
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • NODAL-Related Holoprosencephaly2 tests
  • Non-Hodgkin lymphoma2 tests
  • Non-ketotic hyperglycinemia6 tests
  • Noncompaction of left ventricular myocardium, familial isolated1 test
  • Noonan syndrome3 tests
  • Noonan syndrome 15 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 43 tests
  • Noonan syndrome 54 tests
  • Noonan syndrome 63 tests
  • Noonan syndrome 74 tests
  • Noonan syndrome 83 tests
  • Noonan syndrome with multiple lentigines4 tests
  • Noonan syndrome-like disorder with loose anagen hair 13 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia3 tests
  • Normokalemic periodic paralysis, potassium-sensitive1 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11 test
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 31 test
  • Nystagmus 6, congenital, X-linked1 test
  • Occult macular dystrophy2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II2 tests
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 33 tests
  • Oculocutaneous albinism type 43 tests
  • Oculocutaneous Albinism Type 81 test
  • Oculocutaneous Albinism Type 91 test
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome1 test
  • Oculopharyngeal muscular dystrophy2 tests
  • Oligodontia-colorectal cancer syndrome1 test
  • Omodysplasia 11 test
  • Opitz-Frias syndrome1 test
  • Opsismodysplasia1 test
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures1 test
  • Optic atrophy 72 tests
  • Optic atrophy 81 test
  • Optic atrophy 91 test
  • Optic atrophy and cataract, autosomal dominant4 tests
  • Optic Atrophy Type 111 test
  • Optic Atrophy Type 121 test
  • Optic nerve hypoplasia and abnormalities of the central nervous system1 test
  • Optic nerve hypoplasia, bilateral1 test
  • Oral-facial-digital syndrome2 tests
  • Ornithine aminotransferase deficiency1 test
  • Orofacial cleft 51 test
  • Orofacial cleft 6, susceptibility to1 test
  • Orofaciodigital syndrome 61 test
  • Osler hemorrhagic telangiectasia syndrome2 tests
  • Osteoarthritis with mild chondrodysplasia1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta2 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta with normal sclerae, dominant form1 test
  • Osteogenesis imperfecta, recessive perinatal lethal1 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xiv1 test
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
  • Osteopathia striata with cranial sclerosis1 test
  • 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 61 test
  • Osteopetrosis autosomal recessive 71 test
  • Osteopetrosis with renal tubular acidosis2 tests
  • Osteopetrosis, autosomal recessive 51 test
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I2 tests
  • Oto-palato-digital syndrome, type II2 tests
  • Otospondylomegaepiphyseal dysplasia2 tests
  • Pachydermoperiostosis syndrome1 test
  • Pachyonychia congenita 12 tests
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita syndrome1 test
  • PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia2 tests
  • Paget disease of bone1 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma and woolly hair2 tests
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Pancreatic agenesis and congenital heart disease2 tests
  • Pancreatic cancer 11 test
  • Pancreatic cancer 21 test
  • Pancreatic cancer 31 test
  • Pancreatic Cancer Susceptibility 41 test
  • Panhypopituitarism X-linked1 test
  • Papillary thyroid carcinoma1 test
  • Papillon-Lefèvre syndrome1 test
  • Paraganglioma and gastric stromal sarcoma2 tests
  • Paragangliomas 12 tests
  • Paragangliomas 22 tests
  • Paragangliomas 31 test
  • Paragangliomas 42 tests
  • Paragangliomas 51 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Parastremmatic dwarfism3 tests
  • Parathyroid carcinoma1 test
  • Parkes Weber syndrome3 tests
  • Parkinson disease2 tests
  • Parkinson disease 13 tests
  • Parkinson disease 132 tests
  • Parkinson disease 147 tests
  • Parkinson disease 153 tests
  • Parkinson disease 173 tests
  • Parkinson disease 182 tests
  • Parkinson disease 19a, juvenile-onset2 tests
  • Parkinson disease 24 tests
  • Parkinson disease 41 test
  • Parkinson disease 6, autosomal recessive early-onset3 tests
  • Parkinson disease 73 tests
  • Parkinson disease 8, autosomal dominant3 tests
  • Parkinson disease 95 tests
  • Parkinson-dementia syndrome1 test
  • Parkinsonism with spasticity, X-linked1 test
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal familial ventricular fibrillation 11 test
  • Paroxysmal nocturnal hemoglobinuria 12 tests
  • Partial albinism1 test
  • Partial androgen insensitivity syndrome1 test
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Partington X-linked mental retardation syndrome1 test
  • Patterned dystrophy of retinal pigment epithelium2 tests
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease4 tests
  • Pena-Shokeir syndrome type I3 tests
  • Pendred syndrome1 test
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease4 tests
  • Periventricular Heterotopia2 tests
  • Periventricular nodular heterotopia2 tests
  • Periventricular nodular heterotopia 11 test
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2a (zellweger)1 test
  • Peroxisome biogenesis disorder 3A1 test
  • Peroxisome biogenesis disorder 4a (zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5a (zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peroxisome biogenesis disorders2 tests
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum3 tests
  • Perrault syndrome 52 tests
  • Perry syndrome7 tests
  • Persistent polyclonal B-cell lymphocytosis1 test
  • Peutz-Jeghers syndrome2 tests
  • Pfeiffer syndrome2 tests
  • Phenylketonuria1 test
  • Pheochromocytoma6 tests
  • Phosphoglycerate kinase 1 deficiency1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Phytanic acid storage disease4 tests
  • Pick's disease2 tests
  • Pigmentary pallidal degeneration6 tests
  • Pigmentary retinal dystrophy4 tests
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pigmented paravenous chorioretinal atrophy1 test
  • Pilomatrixoma1 test
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 12 tests
  • Pitt-Hopkins-like syndrome 22 tests
  • Pituitary hormone deficiency, combined 11 test
  • Pituitary hormone deficiency, combined 21 test
  • Pituitary hormone deficiency, combined 31 test
  • Pituitary hormone deficiency, combined 61 test
  • Pityriasis rubra pilaris1 test
  • Plasminogen activator inhibitor type 1 deficiency1 test
  • Platyspondylic lethal skeletal dysplasia Torrance type2 tests
  • Poikiloderma with neutropenia1 test
  • Pol III-related leukodystrophy1 test
  • POLG-Related Disorders4 tests
  • Polycystic kidney disease 22 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy5 tests
  • Polycythemia vera1 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body disease, adult2 tests
  • Polymicrogyria3 tests
  • Polymicrogyria with optic nerve hypoplasia3 tests
  • Polymicrogyria, asymmetric3 tests
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract2 tests
  • Pontocerebellar hypoplasia type 1A6 tests
  • Pontocerebellar hypoplasia type 22 tests
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B3 tests
  • Pontocerebellar hypoplasia type 2C3 tests
  • Pontocerebellar hypoplasia type 2D2 tests
  • Pontocerebellar hypoplasia type 32 tests
  • Pontocerebellar hypoplasia type 44 tests
  • Pontocerebellar hypoplasia type 52 tests
  • Pontocerebellar hypoplasia type 65 tests
  • Pontocerebellar hypoplasia, type 1b3 tests
  • Pontoneocerebellar hypoplasia3 tests
  • Popliteal pterygium syndrome1 test
  • Porencephalic cyst2 tests
  • Porencephaly 11 test
  • Poretti-Boltshauser syndrome1 test
  • Porokeratosis, disseminated superficial actinic 11 test
  • Postaxial polydactyly3 tests
  • Posterior column ataxia with retinitis pigmentosa2 tests
  • Postmenopausal osteoporosis1 test
  • Potassium aggravated myotonia2 tests
  • Prader-Willi syndrome1 test
  • Preaxial polydactyly 43 tests
  • Primary autosomal recessive microcephaly2 tests
  • Primary autosomal recessive microcephaly 12 tests
  • Primary autosomal recessive microcephaly 112 tests
  • Primary autosomal recessive microcephaly 122 tests
  • Primary autosomal recessive microcephaly 23 tests
  • Primary autosomal recessive microcephaly 33 tests
  • Primary autosomal recessive microcephaly 42 tests
  • Primary autosomal recessive microcephaly 53 tests
  • Primary autosomal recessive microcephaly 62 tests
  • Primary autosomal recessive microcephaly 72 tests
  • Primary autosomal recessive microcephaly 82 tests
  • Primary autosomal recessive microcephaly 92 tests
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary erythromelalgia1 test
  • Primary Familial Brain Calcification 51 test
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III2 tests
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary open angle glaucoma1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive intrahepatic cholestasis1 test
  • Progressive myoclonus epilepsy with ataxia4 tests
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia2 tests
  • Progressive sclerosing poliodystrophy5 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1 test
  • Properdin deficiency, X-linked1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Prothrombin deficiency, congenital1 test
  • Protoporphyria, erythropoietic, X-linked1 test
  • Proud Levine Carpenter syndrome1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 1 autosomal dominant1 test
  • Pseudohypoaldosteronism type 1 autosomal recessive3 tests
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoaldosteronism, type 21 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudoprimary hyperaldosteronism2 tests
  • Pseudoxanthoma elasticum3 tests
  • Psoriatic arthritis, susceptibility to1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pustular psoriasis, generalized2 tests
  • Pyknodysostosis1 test
  • Pyogenic arthritis, pyoderma gangrenosum and acne2 tests
  • Pyridoxal 5'-phosphate-dependent epilepsy1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Raine syndrome2 tests
  • Rapadilino syndrome1 test
  • Recessive Dystrophic Epidermolysis Bullosa, Generalized, Other1 test
  • Recurrent abortion1 test
  • Renal adysplasia1 test
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma, nonpapillary2 tests
  • Renal cell carcinoma, papillary, 11 test
  • Renal dysplasia1 test
  • Renal dysplasia and retinal aplasia3 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal dominant2 tests
  • Renal tubular acidosis, distal, autosomal recessive2 tests
  • Renal tubular acidosis, distal, with hemolytic anemia1 test
  • Renal-hepatic-pancreatic dysplasia1 test
  • Renpenning syndrome 14 tests
  • Retinal arteries, tortuosity of1 test
  • Retinal cone dystrophy 3A1 test
  • Retinal cone dystrophy 3B1 test
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities1 test
  • RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA1 test
  • Retinitis pigmentosa3 tests
  • Retinitis pigmentosa 13 tests
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 122 tests
  • Retinitis pigmentosa 131 test
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 153 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 203 tests
  • Retinitis Pigmentosa 231 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 272 tests
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 302 tests
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 331 test
  • Retinitis pigmentosa 351 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 373 tests
  • Retinitis pigmentosa 381 test
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 43 tests
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 411 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 503 tests
  • Retinitis pigmentosa 512 tests
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 561 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 601 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 621 test
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 73 tests
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa 91 test
  • RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
  • Retinitis pigmentosa-deafness syndrome1 test
  • Rett syndrome4 tests
  • Rett syndrome, congenital variant2 tests
  • Revesz syndrome2 tests
  • Reynolds syndrome1 test
  • Rhizomelic chondrodysplasia punctata1 test
  • Rhizomelic chondrodysplasia punctata type 14 tests
  • Rhizomelic chondrodysplasia punctata type 22 tests
  • Rhizomelic chondrodysplasia punctata type 33 tests
  • Riddle syndrome1 test
  • Rieger syndrome1 test
  • Rigidity and multifocal seizure syndrome, lethal neonatal1 test
  • Ring dermoid of cornea1 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow Sorauf syndrome1 test
  • Robinow syndrome1 test
  • Robinow syndrome, autosomal recessive1 test
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1 test
  • Romano-Ward syndrome1 test
  • Roussy-Lévy syndrome2 tests
  • Rubinstein-Taybi syndrome1 test
  • Rubinstein-Taybi syndrome 22 tests
  • Saethre-Chotzen syndrome2 tests
  • Salla disease2 tests
  • Sandhoff disease1 test
  • Sarcoidosis, early-onset2 tests
  • Sarcotubular myopathy1 test
  • Scaphocephaly, maxillary retrusion, and mental retardation1 test
  • Scapuloperoneal myopathy, MYH7-related3 tests
  • Scapuloperoneal myopathy, X-linked dominant1 test
  • Scapuloperoneal spinal muscular atrophy4 tests
  • Scapuloperoneal syndrome, neurogenic, Kaeser type1 test
  • Schaaf-yang syndrome1 test
  • Schimke immunoosseous dysplasia2 tests
  • Schinzel-Giedion syndrome1 test
  • SCHIZENCEPHALY3 tests
  • Schneckenbecken dysplasia2 tests
  • Schwannomatosis 11 test
  • Schwartz Jampel syndrome type 12 tests
  • Schwartz-Jampel Syndrome, Type 101 test
  • Schwartz-Jampel Syndrome, Type 111 test
  • Schwartz-Jampel Syndrome, Type 31 test
  • Schwartz-Jampel Syndrome, Type 41 test
  • Schwartz-Jampel Syndrome, Type 51 test
  • Schwartz-Jampel Syndrome, Type 61 test
  • Schwartz-Jampel Syndrome, Type 71 test
  • Schwartz-Jampel Syndrome, Type 81 test
  • Schwartz-Jampel Syndrome, Type 91 test
  • Sclerosteosis 21 test
  • Sea-blue histiocyte syndrome1 test
  • Seckel syndrome3 tests
  • Seckel syndrome 13 tests
  • Seckel syndrome 24 tests
  • Seckel syndrome 43 tests
  • Seckel syndrome 53 tests
  • Seckel syndrome 64 tests
  • Seckel syndrome 83 tests
  • Secondary hypothyroidism1 test
  • Segawa syndrome, autosomal recessive6 tests
  • Seizures, benign familial infantile, 23 tests
  • Selective tooth agenesis 11 test
  • Senior-Loken syndrome 15 tests
  • Senior-Loken Syndrome 103 tests
  • Senior-Loken Syndrome 113 tests
  • Senior-Loken Syndrome 123 tests
  • Senior-Loken Syndrome 132 tests
  • Senior-Loken Syndrome 142 tests
  • Senior-Loken Syndrome 152 tests
  • Senior-Loken syndrome 44 tests
  • Senior-Loken syndrome 53 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 73 tests
  • Senior-Loken syndrome 83 tests
  • Senior-Loken syndrome 93 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis5 tests
  • Sepiapterin reductase deficiency7 tests
  • Septo-optic dysplasia sequence2 tests
  • Serkal syndrome1 test
  • SeSAME syndrome2 tests
  • Severe achondroplasia with developmental delay and acanthosis nigricans1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1 test
  • Severe congenital neutropenia 2, autosomal dominant1 test
  • Severe congenital neutropenia 3, autosomal recessive2 tests
  • Severe congenital neutropenia 4, autosomal recessive2 tests
  • Severe congenital neutropenia 5, autosomal recessive1 test
  • Severe congenital neutropenia 6, autosomal recessive1 test
  • Severe congenital neutropenia autosomal dominant2 tests
  • Severe congenital neutropenia X-linked1 test
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe X-linked myotubular myopathy2 tests
  • Shaheen syndrome1 test
  • short QT syndrome1 test
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 32 tests
  • Short rib polydactyly syndrome 51 test
  • Short rib-polydactyly syndrome, Majewski type1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly1 test
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Shwachman syndrome3 tests
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis, type II1 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Simpson-Golabi-Behmel syndrome2 tests
  • Simpson-Golabi-Behmel syndrome, type 21 test
  • Single median maxillary incisor1 test
  • Skin fragility woolly hair syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 111 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Smith-McCort dysplasia 11 test
  • Smith-McCort dysplasia 21 test
  • Snyder Robinson syndrome1 test
  • Somatotroph adenoma1 test
  • Sotos syndrome2 tests
  • Sotos syndrome 11 test
  • Sotos syndrome 21 test
  • Spastic Ataxia 31 test
  • Spastic Ataxia 42 tests
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic ataxia Charlevoix-Saguenay type3 tests
  • Spastic paraplegia 11 test
  • Spastic paraplegia 103 tests
  • Spastic paraplegia 11, autosomal recessive4 tests
  • Spastic paraplegia 121 test
  • Spastic paraplegia 133 tests
  • Spastic paraplegia 154 tests
  • Spastic paraplegia 174 tests
  • Spastic paraplegia 25 tests
  • Spastic paraplegia 261 test
  • Spastic Paraplegia 281 test
  • Spastic paraplegia 33 tests
  • Spastic paraplegia 30, autosomal recessive2 tests
  • Spastic paraplegia 31, autosomal dominant4 tests
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 355 tests
  • Spastic paraplegia 392 tests
  • Spastic paraplegia 4, autosomal dominant3 tests
  • Spastic paraplegia 42, autosomal dominant2 tests
  • Spastic paraplegia 44, autosomal recessive3 tests
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spastic Paraplegia 501 test
  • Spastic Paraplegia 511 test
  • Spastic Paraplegia 521 test
  • Spastic paraplegia 55, autosomal recessive1 test
  • Spastic Paraplegia 561 test
  • Spastic paraplegia 5A3 tests
  • Spastic paraplegia 62 tests
  • Spastic paraplegia 75 tests
  • Spastic paraplegia 72, autosomal recessive2 tests
  • Spastic paraplegia 73, autosomal dominant1 test
  • Spastic paraplegia 81 test
  • Spastic paraplegia 91 test
  • Spastic paraplegia 9b, autosomal recessive1 test
  • Spherocytosis type 11 test
  • Spherocytosis type 31 test
  • Spherocytosis type 42 tests
  • Spherocytosis type 51 test
  • Spheroid body myopathy1 test
  • Sphingolipid activator protein 1 deficiency2 tests
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy, distal, autosomal recessive, 13 tests
  • Spinal muscular atrophy, jokela type1 test
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant2 tests
  • Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant4 tests
  • Spinal muscular atrophy, X-linked 23 tests
  • Spinocerebellar ataxia 13 tests
  • Spinocerebellar ataxia 101 test
  • Spinocerebellar ataxia 111 test
  • Spinocerebellar ataxia 121 test
  • Spinocerebellar ataxia 133 tests
  • Spinocerebellar ataxia 142 tests
  • Spinocerebellar ataxia 152 tests
  • Spinocerebellar ataxia 175 tests
  • Spinocerebellar ataxia 191 test
  • Spinocerebellar ataxia 26 tests
  • Spinocerebellar ataxia 211 test
  • Spinocerebellar ataxia 232 tests
  • Spinocerebellar ataxia 273 tests
  • Spinocerebellar ataxia 284 tests
  • Spinocerebellar ataxia 291 test
  • Spinocerebellar ataxia 311 test
  • Spinocerebellar ataxia 351 test
  • Spinocerebellar ataxia 52 tests
  • Spinocerebellar ataxia 62 tests
  • Spinocerebellar ataxia 73 tests
  • Spinocerebellar ataxia autosomal recessive 16 tests
  • Spinocerebellar ataxia autosomal recessive with axonal neuropathy1 test
  • Spinocerebellar Ataxia Type191 test
  • Spinocerebellar ataxia, autosomal recessive 103 tests
  • Spinocerebellar ataxia, autosomal recessive 121 test
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 161 test
  • Spinocerebellar ataxia, autosomal recessive 201 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Split-hand/foot malformation 41 test
  • Split-hand/foot malformation 61 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like3 tests
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepiphyseal dysplasia2 tests
  • Spondyloepiphyseal dysplasia Maroteaux type4 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondylometaepiphyseal dysplasia short limb-hand type2 tests
  • Spondylometaphyseal dysplasia1 test
  • Spondylometaphyseal dysplasia with cone-rod dystrophy1 test
  • Spondylometaphyseal dysplasia, Kozlowski type3 tests
  • Spondyloperipheral dysplasia1 test
  • Spongiform encephalopathy with neuropsychiatric features1 test
  • Spongy degeneration of central nervous system6 tests
  • Squamous cell carcinoma of the head and neck1 test
  • STAR syndrome2 tests
  • Stargardt disease1 test
  • Stargardt disease 13 tests
  • Stargardt Disease 34 tests
  • Stargardt disease 42 tests
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome2 tests
  • Stickler syndrome type 13 tests
  • Stickler syndrome, type 22 tests
  • Stickler syndrome, type 32 tests
  • Stickler syndrome, type 43 tests
  • Stickler syndrome, type 53 tests
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Striatal necrosis, bilateral, and progressive polyneuropathy1 test
  • Sturge-Weber syndrome2 tests
  • Stuve-Wiedemann syndrome2 tests
  • Subacute neuronopathic Gaucher's disease1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 13 tests
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Symmetrical dyschromatosis of extremities4 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly Cenani Lenz type1 test
  • Syndactyly type 32 tests
  • Syndactyly, type V1 test
  • Synpolydactyly 11 test
  • Systemic lupus erythematosus4 tests
  • T-cell receptor alpha/beta deficiency1 test
  • TARDBP-related frontotemporal dementia5 tests
  • TARP syndrome2 tests
  • Tay-Sachs disease6 tests
  • TCTN2-Related Joubert Syndrome4 tests
  • Terminal osseous dysplasia1 test
  • Tetralogy of Fallot5 tests
  • TGBFR2-Related Lynch Syndrome1 test
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thoracic aortic aneurysm and aortic dissection2 tests
  • Three M syndrome 31 test
  • Thrombocythemia 31 test
  • Thrombocytopenia 21 test
  • Thrombocytopenia 51 test
  • Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis1 test
  • Thrombocytopenia, X-linked1 test
  • Thrombocytosis, benign familial microcytic1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombomodulin defect1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1 test
  • Thyroglobulin synthesis defect1 test
  • Thyroid carcinoma1 test
  • Thyroid dysgenesis1 test
  • Thyroid dyshormonogenesis 11 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyroid hormone resistance, selective pituitary1 test
  • Thyrotoxic periodic paralysis1 test
  • Thyrotoxic periodic paralysis 21 test
  • Thyrotoxic periodic paralysis, susceptibility to, 31 test
  • Tietz syndrome1 test
  • Timothy syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Townes-Brocks syndrome 12 tests
  • Transcobalamin II deficiency2 tests
  • Transposition of the great arteries, dextro-looped 11 test
  • Transposition of the great arteries, dextro-looped 31 test
  • Treacher Collins syndrome1 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Tremor, hereditary essential, 41 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichorhinophalangeal syndrome type 32 tests
  • Trichothiodystrophy 1, photosensitive5 tests
  • Trichothiodystrophy, nonphotosensitive 11 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Triphalangeal thumb polysyndactyly syndrome1 test
  • Tropical calcific pancreatitis1 test
  • Troyer syndrome4 tests
  • Trypsinogen deficiency1 test
  • Tuberous sclerosis 13 tests
  • Tuberous Sclerosis 101 test
  • Tuberous Sclerosis 111 test
  • Tuberous Sclerosis 121 test
  • Tuberous Sclerosis 131 test
  • Tuberous Sclerosis 141 test
  • Tuberous Sclerosis 151 test
  • Tuberous Sclerosis 161 test
  • Tuberous Sclerosis 171 test
  • Tuberous Sclerosis 181 test
  • Tuberous sclerosis 23 tests
  • Tuberous Sclerosis 31 test
  • Tuberous Sclerosis 41 test
  • Tuberous Sclerosis 51 test
  • Tuberous Sclerosis 61 test
  • Tuberous Sclerosis 71 test
  • Tuberous Sclerosis 81 test
  • Tuberous Sclerosis 91 test
  • Tuberous sclerosis syndrome1 test
  • Tumoral calcinosis, familial, hyperphosphatemic1 test
  • Turcot syndrome3 tests
  • Type A1 brachydactyly1 test
  • Type A2 brachydactyly1 test
  • Type B brachydactyly1 test
  • Type C brachydactyly1 test
  • Type D brachydactyly2 tests
  • Type II lissencephaly2 tests
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosinemia type I1 test
  • Ullrich congenital muscular dystrophy 12 tests
  • Ulnar-mammary syndrome2 tests
  • Unverricht-Lundborg syndrome4 tests
  • Upshaw-Schulman syndrome2 tests
  • Usher syndrome type 21 test
  • Usher syndrome, type 11 test
  • Usher syndrome, type 1B1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1D1 test
  • Usher syndrome, type 1E1 test
  • Usher syndrome, type 1F1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1H1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 1K1 test
  • Usher syndrome, type 2A2 tests
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D2 tests
  • Usher syndrome, type 3A2 tests
  • Usher syndrome, type 3B1 test
  • Uv-induced skin damage, susceptibility to1 test
  • UV-sensitive syndrome1 test
  • UV-sensitive syndrome 21 test
  • VACTERL association with hydrocephalus1 test
  • Van Buchem disease type 21 test
  • Van der Woude syndrome1 test
  • Vasculopathy, retinal, with cerebral leukodystrophy5 tests
  • Venous thrombosis2 tests
  • Ventricular septal defect 11 test
  • Ventricular septal defect 32 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 41 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
  • Visceral myopathy1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitamin D-dependent rickets, type 21 test
  • Vitelliform macular dystrophy type 22 tests
  • Vitreoretinochoroidopathy1 test
  • Vohwinkel syndrome, variant form1 test
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • Von Willebrand disease, recessive form1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 21 test
  • Waardenburg syndrome type 2A2 tests
  • Waardenburg syndrome type 2B1 test
  • Waardenburg syndrome type 2C1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C2 tests
  • Wagner syndrome2 tests
  • Warburg micro syndrome 14 tests
  • Warburg micro syndrome 23 tests
  • Warburg micro syndrome 32 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
  • Weaver syndrome2 tests
  • Welander distal myopathy3 tests
  • Werner syndrome1 test
  • WFS1-Related Disorders2 tests
  • Wieacker Wolff syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Wilson disease4 tests
  • Wilson-Turner X-linked mental retardation syndrome1 test
  • Wiskott-Aldrich syndrome2 tests
  • Wolcott-Rallison dysplasia1 test
  • Wolfram syndrome1 test
  • Wolfram Syndrome-Like Disease1 test
  • Wolfram-like syndrome, autosomal dominant1 test
  • Worth disease1 test
  • X-linked agammaglobulinemia1 test
  • X-linked hereditary motor and sensory neuropathy3 tests
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked mental retardation with marfanoid habitus syndrome1 test
  • X-linked severe combined immunodeficiency1 test
  • Xeroderma pigmentosum4 tests
  • Xeroderma pigmentosum, complementation group b4 tests
  • Xeroderma pigmentosum, group C4 tests
  • Xeroderma pigmentosum, group D6 tests
  • Xeroderma pigmentosum, group E3 tests
  • Xeroderma pigmentosum, group F5 tests
  • Xeroderma pigmentosum, group G5 tests
  • Xeroderma pigmentosum, type 14 tests
  • Xeroderma pigmentosum, variant type3 tests
  • XFE progeroid syndrome1 test
  • Zellweger syndrome3 tests
  • Zonular pulverulent cataract 31 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Mutation Confirmation
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D2130225, Expiration date: 2019-06-20
  • CAP, Number: 8848535, Expiration date: 2018-03-04
  • ISO15189, Number: D-ML-13206-01-00, Expiration date: 2021-08-16

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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