GTR Home > Laboratories > Emory Genetics Laboratory

Emory Genetics Laboratory

  • Emory Genetics Laboratory, EGL
  • Emory University School of Medicine
  • Department: Department of Human Genetics
  • 2165 North Decatur Road
  • Decatur, Georgia, United States 30033
  • Phone: 855-831-7447
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Website: http://genetics.emory.edu/egl/

GTR Lab ID: 500060, Last updated:2015-06-16

Personnel

  • Director: Christin Collins, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Katie Rudd, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: John Alexander, PhD, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Lora Bean, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Bradford Coffee, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Zunyan Dai, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Patricia Hall, PhD, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Madhuri Hegde, PhD, ABMG, FACMG, DABMG
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: J Sharer, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Alice Tanner, PhD, MS, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Director: Yuan Xue, PhD, MD, Lab Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Lisa Catalano, MS, Genetic Counselor
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Natalie Vena, MS, Genetic Counselor
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Elizabeth Woolley, MS, Genetic Counselor
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Brian Bunke, BS, Lab Associate Director
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Bradford Coffee
  • Ymkje Cuperus, MS, Genetic Counselor
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Tisa Harper
  • Alekhya Narravula, MS, Genetic Counselor
    Phone: 404-778-8499
    Fax: 404-778-8559
    Email: eglgc@emory.edu
  • Alekhya Narravula

Conditions and tests

  • 2-methyl-3-hydroxybutyric aciduria1 test
  • 21-hydroxylase deficiency1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
  • 3-Methylglutaconic aciduria2 tests
  • 3-Methylglutaconic aciduria type 24 tests
  • 3-Methylglutaconic aciduria type 36 tests
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2 tests
  • 46,XY sex reversal, type 21 test
  • 46,XY sex reversal, type 31 test
  • Aarskog syndrome5 tests
  • Abetalipoproteinaemia1 test
  • Abnormality of mitochondrial metabolism1 test
  • Acheiropodia2 tests
  • Achondrogenesis type 27 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB4 tests
  • Achondroplasia4 tests
  • Achromatopsia1 test
  • Achromatopsia 22 tests
  • Achromatopsia 34 tests
  • Achromatopsia 42 tests
  • Acquired hemoglobin H disease4 tests
  • Acrocallosal syndrome, Schinzel type7 tests
  • Acrocapitofemoral dysplasia3 tests
  • Acrocephalosyndactyly type I3 tests
  • Acrodysostosis1 test
  • Acrodysostosis 1 with or without hormone resistance2 tests
  • Acromesomelic dysplasia Hunter Thompson type3 tests
  • Acromesomelic dysplasia Maroteaux type2 tests
  • Acromicric dysplasia6 tests
  • Acute lymphoid leukemia1 test
  • Acute neuronopathic Gaucher's disease2 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of3 tests
  • Adams-Oliver syndrome 12 tests
  • Adenylosuccinate lyase deficiency3 tests
  • Adolescent nephronophthisis8 tests
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy2 tests
  • Adult hypophosphatasia3 tests
  • Adult neuronal ceroid lipofuscinosis6 tests
  • Adult onset ataxia with oculomotor apraxia1 test
  • ADULT syndrome2 tests
  • Advanced maternal age gravida5 tests
  • Age-related macular degeneration 25 tests
  • Age-related macular degeneration 33 tests
  • Age-related macular degeneration 62 tests
  • Aicardi Goutieres syndrome 11 test
  • Aicardi Goutieres syndrome 21 test
  • Aicardi Goutieres syndrome 31 test
  • Aicardi Goutieres syndrome 45 tests
  • Aicardi Goutieres syndrome 51 test
  • Aicardi's syndrome1 test
  • Alagille syndrome 11 test
  • Alagille syndrome 23 tests
  • Albinism1 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • ALBINISM, OCULOCUTANEOUS, TYPE VI1 test
  • Allan-Herndon-Dudley syndrome3 tests
  • Alpha mannosidosis type 21 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency3 tests
  • Alpha-B crystallinopathy2 tests
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
  • Alport syndrome, X-linked recessive1 test
  • Alstrom syndrome3 tests
  • Alternating hemiplegia of childhood1 test
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia1 test
  • Ambiguous genitalia2 tests
  • AMELOGENESIS IMPERFECTA, TYPE IV2 tests
  • Aminoglycoside-induced deafness1 test
  • Amish infantile epilepsy syndrome3 tests
  • Amish lethal microcephaly2 tests
  • AML - Acute myeloid leukemia4 tests
  • Amyloidogenic transthyretin amyloidosis3 tests
  • Amyloidosis hereditary2 tests
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Andermann syndrome2 tests
  • Andersen Tawil syndrome4 tests
  • Angelman syndrome9 tests
  • Angelman syndrome-like2 tests
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps2 tests
  • Aniridia, cerebellar ataxia, and mental retardation3 tests
  • Anophthalmos with limb anomalies2 tests
  • Anterior segment mesenchymal dysgenesis2 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
  • Aortic aneurysm1 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic valve disorder1 test
  • Aphakia, congenital primary2 tests
  • Aplastic anemia5 tests
  • Arginine:glycine amidinotransferase deficiency2 tests
  • Argininosuccinate lyase deficiency4 tests
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 113 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 123 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 28 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 53 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 83 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 93 tests
  • Arterial calcification of infancy2 tests
  • Arterial tortuosity syndrome4 tests
  • Arthrogryposis multiplex congenita distal type 12 tests
  • Arthrogryposis renal dysfunction cholestasis syndrome1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arthropathy, erosive1 test
  • Arts syndrome5 tests
  • Aspartylglycosaminuria6 tests
  • Asperger syndrome X-linked 12 tests
  • Asphyxiating thoracic dystrophy 23 tests
  • Asphyxiating thoracic dystrophy 43 tests
  • Asphyxiating thoracic dystrophy 51 test
  • Asthma, nasal polyps, and aspirin intolerance2 tests
  • Ataxia with vitamin E deficiency2 tests
  • Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation1 test
  • Ataxia-telangiectasia syndrome7 tests
  • Ataxia-telangiectasia-like disorder2 tests
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type 23 tests
  • Atelosteogenesis type 32 tests
  • Athabaskan brainstem dysgenesis1 test
  • ATR-X syndrome6 tests
  • Atrial fibrillation, familial, 106 tests
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 135 tests
  • Atrial fibrillation, familial, 35 tests
  • Atrial fibrillation, familial, 44 tests
  • Atrial fibrillation, familial, 94 tests
  • Atrial myxoma, familial3 tests
  • Atrial septal defect1 test
  • Atrial septal defect 31 test
  • Atrial septal defect 53 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects5 tests
  • Atrial septal defect 91 test
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 51 test
  • Atrophia bulborum hereditaria6 tests
  • Attenuated FAP2 tests
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Autism spectrum disorders7 tests
  • Autism, susceptibility to, 181 test
  • Autism, susceptibility to, X-linked 13 tests
  • Autism, susceptibility to, X-linked 24 tests
  • Autism, susceptibility to, X-linked 32 tests
  • Autism, susceptibility to, X-linked 53 tests
  • Autosomal dominant hypohidrotic ectodermal dysplasia1 test
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 15 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
  • Autosomal hypohidrotic ectodermal dysplasia1 test
  • Autosomal recessive centronuclear myopathy1 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B2 tests
  • Autosomal recessive cutis laxa type IA3 tests
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
  • Avascular necrosis of the head of femur7 tests
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 33 tests
  • Azoospermia2 tests
  • Baller-Gerold syndrome4 tests
  • Bamforth syndrome2 tests
  • Bannayan-Riley-Ruvalcaba syndrome7 tests
  • Baraitser-Winter Syndrome 23 tests
  • Bardet-Biedl syndrome18 tests
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 101 test
  • Bartter syndrome type 41 test
  • Basal cell carcinoma, multiple4 tests
  • Basal cell carcinoma, susceptibility to, 71 test
  • Basal ganglia disease, biotin-responsive3 tests
  • Becker muscular dystrophy7 tests
  • Beckwith-Wiedemann syndrome9 tests
  • Behavior disorder2 tests
  • Benign familial neonatal seizures 12 tests
  • Benign familial neonatal seizures 22 tests
  • Benign familial neonatal-infantile seizures2 tests
  • Benign recurrent intrahepatic cholestasis 11 test
  • Benign recurrent intrahepatic cholestasis 21 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy9 tests
  • Bent bone dysplasia syndrome3 tests
  • Bernard Soulier syndrome1 test
  • Bestrophinopathy, autosomal recessive4 tests
  • beta Thalassemia1 test
  • Beta-D-mannosidosis8 tests
  • Bethlem myopathy14 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifid nose with or without anorectal and renal anomalies2 tests
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Bilateral right-sidedness sequence1 test
  • Bile acid malabsorption, primary1 test
  • Bile acid synthesis defect, congenital, 11 test
  • Bile acid synthesis defect, congenital, 21 test
  • Bile acid synthesis defect, congenital, 31 test
  • Bilirubin, serum level of, quantitative trait locus 11 test
  • Biotinidase deficiency5 tests
  • Bloom syndrome6 tests
  • Bone mineral density quantitative trait locus 15 tests
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome7 tests
  • Bothnia retinal dystrophy3 tests
  • Boucher Neuhauser syndrome1 test
  • Brachydactyly type A13 tests
  • Brachydactyly type A23 tests
  • Brachydactyly type B14 tests
  • Brachydactyly type B22 tests
  • Brachydactyly type C3 tests
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • BRACHYDACTYLY, TYPE A1, C3 tests
  • Brachydactyly-Mental Retardation syndrome2 tests
  • Brachydactyly-syndactyly syndrome2 tests
  • Brachyrachia (short spine dysplasia)3 tests
  • Brain small vessel disease with hemorrhage2 tests
  • Brain tumor-polyposis syndrome 22 tests
  • Branched-chain ketoacid dehydrogenase kinase deficiency3 tests
  • Branchiootic syndrome1 test
  • Branchiootic syndrome 31 test
  • Breast cancer, early-onset1 test
  • Breast cancer, familial male1 test
  • Breast cancer, lobular1 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial 16 tests
  • Breast-ovarian cancer, familial 26 tests
  • Breast-ovarian cancer, familial 41 test
  • Brittle cornea syndrome 21 test
  • Brody myopathy1 test
  • Bronchiectasis4 tests
  • Bronchiectasis with or without elevated sweat chloride 23 tests
  • Bronchiectasis with or without elevated sweat chloride 33 tests
  • Bruck syndrome 22 tests
  • Brugada syndrome1 test
  • Brugada syndrome 16 tests
  • Brugada syndrome 23 tests
  • Brugada syndrome 37 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 55 tests
  • Brugada syndrome 63 tests
  • Brugada syndrome 73 tests
  • Brugada syndrome 84 tests
  • Bulimia nervosa 12 tests
  • Bull's eye macular dystrophy4 tests
  • Camptodactyly, tall stature, and hearing loss syndrome4 tests
  • Camptomelic dysplasia3 tests
  • Capillary malformation-arteriovenous malformation2 tests
  • Carbohydrate-deficient glycoprotein syndrome11 tests
  • Carbohydrate-deficient glycoprotein syndrome type I6 tests
  • Carbohydrate-deficient glycoprotein syndrome type II3 tests
  • Carcinoid tumor of intestine2 tests
  • Carcinoma of cervix3 tests
  • Carcinoma of colon9 tests
  • Carcinoma of pancreas2 tests
  • Cardiac arrhythmia2 tests
  • Cardiac arrhythmia, ankyrin B-related4 tests
  • Cardiac valvular dysplasia, X-linked8 tests
  • Cardio-facio-cutaneous syndrome12 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Cardiofaciocutaneous syndrome 23 tests
  • Cardiofaciocutaneous syndrome 33 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy2 tests
  • Cardiomyopathy dilated with woolly hair and keratoderma3 tests
  • Cardiomyopathy, dilated, 2b1 test
  • Carney complex, type 13 tests
  • Carnitine acylcarnitine translocase deficiency3 tests
  • Carnitine palmitoyltransferase I deficiency5 tests
  • Carnitine palmitoyltransferase II deficiency2 tests
  • Carnitine palmitoyltransferase II deficiency, infantile2 tests
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET1 test
  • CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL2 tests
  • Carotid intimal medial thickness 11 test
  • Carpal tunnel syndrome3 tests
  • Cataract 402 tests
  • Cataract, nuclear total2 tests
  • Cataract, posterior polar, 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia8 tests
  • Cellular mosaicism2 tests
  • Central core disease2 tests
  • Central precocious puberty1 test
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia5 tests
  • Cerebellar ataxia, deafness, and narcolepsy2 tests
  • Cerebral cavernous malformations 11 test
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate deficiency5 tests
  • Cerebro-oculo-facio-skeletal syndrome1 test
  • Cerebrooculonasal syndrome1 test
  • Ceroid lipofuscinosis neuronal 17 tests
  • Ceroid lipofuscinosis neuronal 105 tests
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant3 tests
  • Ceroid lipofuscinosis neuronal 57 tests
  • Ceroid lipofuscinosis neuronal 66 tests
  • Ceroid lipofuscinosis neuronal 76 tests
  • Ceroid lipofuscinosis neuronal 87 tests
  • Ceroid lipofuscinosis, neuronal, 113 tests
  • Ceroid lipofuscinosis, neuronal, 27 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant6 tests
  • Charcot-Marie-Tooth disease2 tests
  • Charcot-Marie-Tooth disease dominant intermediate 31 test
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B19 tests
  • Charcot-Marie-Tooth disease type 2C2 tests
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2F1 test
  • 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, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, recessive intermediate A1 test
  • Charcot-Marie-Tooth disease, recessive intermediate c1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A22 tests
  • Charcot-Marie-Tooth disease, type 2L1 test
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B11 test
  • Charcot-Marie-Tooth disease, type 4B21 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 IA1 test
  • Charcot-Marie-Tooth disease, type IB1 test
  • Charcot-Marie-Tooth disease, type IC1 test
  • Charcot-Marie-Tooth disease, type ID1 test
  • Charcot-Marie-Tooth disease, type IE1 test
  • Charcot-Marie-Tooth disease, type IF1 test
  • Charcot-Marie-Tooth disease, type IVF1 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 55 tests
  • CHARGE association4 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia2 tests
  • Cholecystitis1 test
  • Cholestanol storage disease2 tests
  • Cholestasis of pregnancy1 test
  • Cholestasis, intrahepatic, of pregnancy 31 test
  • Chondrocalcinosis 24 tests
  • Chondrodysplasia acromesomelic with genital anomalies3 tests
  • Chondrodysplasia Blomstrand type2 tests
  • Chondroectodermal dysplasia3 tests
  • Chondrosarcoma3 tests
  • Choreoathetosis1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Choreoathetosis/spasticity, episodic3 tests
  • Choroid plexus papilloma1 test
  • Choroidal dystrophy, central areolar 25 tests
  • Choroideremia5 tests
  • Christianson syndrome6 tests
  • Chromosome 22q deletion1 test
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb2 tests
  • Chromosome 9q deletion syndrome4 tests
  • Chromosome Xp22 deletion syndrome4 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 31 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic obstructive pulmonary disease1 test
  • Chudley-McCullough syndrome1 test
  • Ciliary dyskinesia, primary, 103 tests
  • Ciliary dyskinesia, primary, 113 tests
  • Ciliary dyskinesia, primary, 123 tests
  • Ciliary dyskinesia, primary, 133 tests
  • Ciliary dyskinesia, primary, 143 tests
  • Ciliary dyskinesia, primary, 153 tests
  • Ciliary dyskinesia, primary, 163 tests
  • Ciliary dyskinesia, primary, 21 test
  • Ciliary dyskinesia, primary, 33 tests
  • Ciliary dyskinesia, primary, 63 tests
  • Ciliary dyskinesia, primary, 73 tests
  • Ciliary dyskinesia, primary, 93 tests
  • Citrullinemia type I4 tests
  • Citrullinemia type II2 tests
  • Classical maple syrup urine disease1 test
  • Cleidocranial dysostosis2 tests
  • COACH syndrome8 tests
  • Cobalamin deficiency1 test
  • Cockayne syndrome type A1 test
  • Cockayne syndrome, type B1 test
  • Coenzyme Q10 deficiency, primary 12 tests
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coffin-Lowry syndrome5 tests
  • Cognitive impairment with or without cerebellar ataxia2 tests
  • Cohen syndrome5 tests
  • Cole disease2 tests
  • Coloboma of optic disc3 tests
  • Colorectal adenoma4 tests
  • Colorectal cancer 21 test
  • Colorectal cancer 45 tests
  • Colorectal cancer 55 tests
  • Colorectal cancer 84 tests
  • Colorectal cancer, hereditary, nonpolyposis, type 18 tests
  • Combined cellular and humoral immune defects with granulomas1 test
  • Combined deficiency of sialidase AND beta galactosidase3 tests
  • Combined immunodeficiency, X-linked1 test
  • Combined malonic and methylmalonic aciduria1 test
  • Combined oxidative phosphorylation deficiency 121 test
  • Combined oxidative phosphorylation deficiency 131 test
  • Combined saposin deficiency3 tests
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 8, with autoimmunity1 test
  • Common variable immunodeficiency 91 test
  • Complete trisomy 13 syndrome2 tests
  • Complete trisomy 18 syndrome2 tests
  • Complete trisomy 21 syndrome2 tests
  • Cone dystrophy 32 tests
  • Cone dystrophy 42 tests
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 103 tests
  • Cone-rod dystrophy 112 tests
  • Cone-rod dystrophy 124 tests
  • Cone-rod dystrophy 136 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 36 tests
  • Cone-rod dystrophy 52 tests
  • Cone-rod dystrophy 65 tests
  • Cone-rod dystrophy 72 tests
  • Cone-rod dystrophy 93 tests
  • Cone-rod dystrophy amelogenesis imperfecta2 tests
  • Cone-rod dystrophy X-linked 33 tests
  • Cone-rod dystrophy, X-linked 17 tests
  • Congenital absence of salivary gland2 tests
  • Congenital adrenal hyperplasia2 tests
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital aniridia3 tests
  • Congenital bilateral absence of the vas deferens4 tests
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
  • Congenital central hypoventilation4 tests
  • Congenital chromosomal disease6 tests
  • Congenital contractural arachnodactyly4 tests
  • Congenital cystic disease of liver4 tests
  • Congenital defect of folate absorption1 test
  • Congenital diaphragmatic hernia1 test
  • Congenital disorder of glycosylation type 1B4 tests
  • Congenital disorder of glycosylation type 1C3 tests
  • Congenital disorder of glycosylation type 1D3 tests
  • Congenital disorder of glycosylation type 1E3 tests
  • Congenital disorder of glycosylation type 1F3 tests
  • Congenital disorder of glycosylation type 1G3 tests
  • Congenital disorder of glycosylation type 1H3 tests
  • Congenital disorder of glycosylation type 1I3 tests
  • Congenital disorder of glycosylation type 1J4 tests
  • Congenital disorder of glycosylation type 1K1 test
  • Congenital disorder of glycosylation type 1L3 tests
  • Congenital disorder of glycosylation type 1M3 tests
  • Congenital disorder of glycosylation type 1N3 tests
  • Congenital disorder of glycosylation type 1O4 tests
  • Congenital disorder of glycosylation type 1P2 tests
  • Congenital disorder of glycosylation type 1Q2 tests
  • Congenital disorder of glycosylation type 1s1 test
  • Congenital disorder of glycosylation type 1t3 tests
  • Congenital disorder of glycosylation type 1u1 test
  • Congenital disorder of glycosylation type 1v1 test
  • Congenital disorder of glycosylation type 2B5 tests
  • Congenital disorder of glycosylation type 2C3 tests
  • Congenital disorder of glycosylation type 2D3 tests
  • Congenital disorder of glycosylation type 2E3 tests
  • Congenital disorder of glycosylation type 2F3 tests
  • Congenital disorder of glycosylation type 2G3 tests
  • Congenital disorder of glycosylation type 2H3 tests
  • Congenital disorder of glycosylation type 2i2 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k1 test
  • Congenital disorder of glycosylation type 2L2 tests
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 22 tests
  • Congenital hyperammonemia, type I1 test
  • Congenital hypomyelinating neuropathy1 test
  • Congenital hypothyroidism6 tests
  • Congenital muscular dystrophy, LMNA-related9 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B511 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A59 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A210 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A62 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A74 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A81 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B110 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B210 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B38 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B410 tests
  • Congenital muscular hypertrophy-cerebral syndrome6 tests
  • Congenital myasthenic syndrome with tubular aggregates 11 test
  • Congenital myasthenic syndrome, acetazolamide-responsive2 tests
  • Congenital myopathy with fiber type disproportion4 tests
  • Congenital ocular coloboma3 tests
  • Congenital order of glycosylation type 1r2 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness, autosomal dominant 14 tests
  • Congenital stationary night blindness, autosomal dominant 23 tests
  • Congenital stationary night blindness, autosomal dominant 32 tests
  • Congenital stationary night blindness, type 1A2 tests
  • Congenital stationary night blindness, type 1B2 tests
  • Congenital stationary night blindness, type 1C2 tests
  • Congenital stationary night blindness, type 1D2 tests
  • Congenital stationary night blindness, type 1E2 tests
  • Congenital stationary night blindness, type 1F2 tests
  • Congenital stationary night blindness, type 2A3 tests
  • Congenital stationary night blindness, type 2B4 tests
  • Conotruncal heart malformations4 tests
  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility1 test
  • Cornelia de Lange syndrome 17 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 41 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia3 tests
  • Corpus callosum, partial agenesis of, X-linked3 tests
  • Cortical dysplasia, complex, with other brain malformations 12 tests
  • Cortical dysplasia-focal epilepsy syndrome3 tests
  • Cortical malformations, occipital2 tests
  • Costello syndrome5 tests
  • Cousin syndrome2 tests
  • Cowden syndrome3 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 23 tests
  • Cowden syndrome 34 tests
  • Coxa plana6 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 23 tests
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 41 test
  • Craniometaphyseal dysplasia, autosomal dominant4 tests
  • Creatine phosphokinase, elevated serum7 tests
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome3 tests
  • Crouzon syndrome with acanthosis nigricans4 tests
  • Cryptophthalmos syndrome2 tests
  • Curry-Hall syndrome3 tests
  • Cushing's symphalangism2 tests
  • Cushing's syndrome3 tests
  • Cutaneous malignant melanoma 14 tests
  • Cutaneous malignant melanoma 23 tests
  • Cutaneous malignant melanoma 31 test
  • Cutaneous malignant melanoma 92 tests
  • Cutaneous telangiectasia and cancer syndrome, familial1 test
  • Cutis Gyrata syndrome of Beare and Stevenson3 tests
  • Cutis laxa with osteodystrophy6 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
  • Cutis laxa, autosomal dominant4 tests
  • Cutis laxa, autosomal dominant 23 tests
  • Cutis laxa, X-linked1 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis13 tests
  • Cystinosis1 test
  • Cystinosis, atypical nephropathic1 test
  • Cystinosis, ocular nonnephropathic1 test
  • Cytochrome c oxidase i deficiency1 test
  • Cytochrome-c oxidase deficiency1 test
  • Czech dysplasia metatarsal type7 tests
  • Dandy-Walker like malformation with atrioventricular septal defect1 test
  • Danon disease10 tests
  • De Sanctis-Cacchione syndrome1 test
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 114 tests
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 135 tests
  • Deafness, autosomal dominant 203 tests
  • Deafness, autosomal dominant 221 test
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 361 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 41 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 481 test
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal dominant nonsyndromic sensorineural 171 test
  • Deafness, autosomal recessive 124 tests
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 184 tests
  • Deafness, autosomal recessive 1A3 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 24 tests
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 234 tests
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 291 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 301 test
  • Deafness, autosomal recessive 314 tests
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 491 test
  • Deafness, autosomal recessive 535 tests
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 611 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 771 test
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 862 tests
  • Deafness, autosomal recessive 91 test
  • Deafness, autosomal recessive 911 test
  • Deafness, digenic, GJB2/GJB64 tests
  • Deafness, high-frequency sensorineural, X-linked3 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial2 tests
  • Deafness, X-linked 21 test
  • Deafness, X-linked 41 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of alpha-mannosidase8 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase1 test
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of galactokinase3 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase2 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
  • Deficiency of isobutyryl-CoA dehydrogenase2 tests
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase5 tests
  • Dejerine-Sottas disease1 test
  • Dent disease 12 tests
  • Dent disease 21 test
  • Denticles1 test
  • Dentinogenesis imperfecta - Shield's type II1 test
  • Dentinogenesis imperfecta - Shield's type III1 test
  • Dermatofibrosis lenticularis disseminata2 tests
  • Dermatosparaxis1 test
  • Desbuquois syndrome2 tests
  • Desmoid disease, hereditary1 test
  • Desmosterolosis2 tests
  • DFNA 2 Nonsyndromic Hearing Loss1 test
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
  • Diabetes mellitus type 12 tests
  • Diabetes mellitus type 25 tests
  • Diabetes mellitus, insulin-dependent, 21 test
  • Diabetes mellitus, insulin-dependent, 202 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
  • Diabetes mellitus, noninsulin-dependent, 11 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis1 test
  • Diaphyseal dysplasia2 tests
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia3 tests
  • Diffuse mesangial sclerosis1 test
  • DiGeorge sequence1 test
  • DiGeorge syndrome/velocardiofacial syndrome complex 22 tests
  • Digital arthropathy-brachydactyly, familial2 tests
  • Digital clubbing, isolated congenital2 tests
  • Digitorenocerebral syndrome2 tests
  • Dihydropteridine reductase deficiency1 test
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy3 tests
  • Dilated cardiomyopathy 1A9 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB3 tests
  • Dilated cardiomyopathy 1C3 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1DD2 tests
  • Dilated cardiomyopathy 1E6 tests
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF3 tests
  • Dilated cardiomyopathy 1G7 tests
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I3 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK2 tests
  • Dilated cardiomyopathy 1L7 tests
  • Dilated cardiomyopathy 1M2 tests
  • Dilated cardiomyopathy 1N5 tests
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P2 tests
  • Dilated cardiomyopathy 1R3 tests
  • Dilated cardiomyopathy 1S4 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1W2 tests
  • Dilated cardiomyopathy 1X12 tests
  • Dilated cardiomyopathy 1Y3 tests
  • Dilated cardiomyopathy 1Z3 tests
  • Dilated cardiomyopathy 2A3 tests
  • Dilated cardiomyopathy 3B7 tests
  • Disorder of amino acid metabolism5 tests
  • Disorder of fatty acid metabolism4 tests
  • Disorder of organic acid metabolism5 tests
  • Disorder of the urea cycle metabolism1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal arthrogryposis type 2B4 tests
  • Distal hereditary motor neuronopathy type 2A1 test
  • Distal hereditary motor neuronopathy type 2B1 test
  • Distal hereditary motor neuronopathy type 53 tests
  • Distal hereditary motor neuronopathy type 5B1 test
  • Distal hereditary motor neuronopathy type 7B1 test
  • Distal myopathy Markesbery-Griggs type5 tests
  • Distal myopathy, Tateyama type7 tests
  • Distal spinal muscular atrophy, autosomal recessive 41 test
  • Distal spinal muscular atrophy, congenital nonprogressive2 tests
  • Distal spinal muscular atrophy, X-linked 31 test
  • Dizygotic twins1 test
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy2 tests
  • Dominant hereditary optic atrophy4 tests
  • Doyne honeycomb retinal dystrophy3 tests
  • Drash syndrome4 tests
  • Duane-radial ray syndrome3 tests
  • Dubin-Johnson syndrome1 test
  • Duchenne muscular dystrophy10 tests
  • Dyggve-Melchior-Clausen syndrome2 tests
  • Dysequilibrium syndrome4 tests
  • Dyskeratosis congenita X-linked3 tests
  • Dyskeratosis congenita, autosomal dominant, 22 tests
  • Dysmorphic features2 tests
  • Dystonia 11 test
  • Dystonia 102 tests
  • Dystonia 183 tests
  • Dystonia 3, torsion, X-linked1 test
  • Dystonia 6, torsion1 test
  • Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive1 test
  • Dystonia, primary cervical1 test
  • Dystransthyretinemic euthyroidal hyperthyroxinemia3 tests
  • Dystrophinopathies2 tests
  • Early infantile epileptic encephalopathy 105 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 153 tests
  • Early infantile epileptic encephalopathy 162 tests
  • Early infantile epileptic encephalopathy 24 tests
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 72 tests
  • Early infantile epileptic encephalopathy 85 tests
  • Early infantile epileptic encephalopathy 96 tests
  • Early myoclonic encephalopathy2 tests
  • Early repolarization associated with ventricular fibrillation1 test
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
  • Ectodermal dysplasia, X-linked1 test
  • Ectopia lentis, isolated, autosomal dominant6 tests
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
  • EEM syndrome5 tests
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome progeroid type3 tests
  • Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form3 tests
  • Ehlers-Danlos syndrome, classic type7 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
  • Ehlers-Danlos syndrome, musculocontractural type4 tests
  • Ehlers-Danlos syndrome, procollagen proteinase deficient5 tests
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, type 33 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Eichsfeld type congenital muscular dystrophy6 tests
  • Eiken skeletal dysplasia2 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked6 tests
  • Emery-dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-dreifuss muscular dystrophy 5, autosomal dominant1 test
  • Emery-dreifuss muscular dystrophy 61 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
  • Emery-Dreifuss muscular dystrophy, X-linked1 test
  • Encephalopathy, neonatal severe, due to MECP2 mutations4 tests
  • Encephalopathy, progressive, with or without lipodystrophy1 test
  • Endocrine-cerebroosteodysplasia2 tests
  • Endometrial carcinoma13 tests
  • Endplate acetylcholinesterase deficiency2 tests
  • Enhanced s-cone syndrome2 tests
  • Enlarged vestibular aqueduct syndrome3 tests
  • Epidermal nevus6 tests
  • Epidermal nevus syndrome3 tests
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy5 tests
  • Epidermolysis bullosa1 test
  • Epidermolysis bullosa simplex with pyloric atresia5 tests
  • Epidermolysis bullosa simplex, Ogna type5 tests
  • Epidermolysis bullosa, lethal acantholytic3 tests
  • Epilepsy juvenile absence1 test
  • Epilepsy, childhood absence 52 tests
  • Epilepsy, familial temporal lobe, 52 tests
  • Epilepsy, lateral temporal lobe, autosomal dominant2 tests
  • Epilepsy, nocturnal frontal lobe, 52 tests
  • Epilepsy, nocturnal frontal lobe, type 12 tests
  • Epilepsy, nocturnal frontal lobe, type 32 tests
  • Epilepsy, nocturnal frontal lobe, type 42 tests
  • Epilepsy, progressive myoclonic 35 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
  • Epilepsy, progressive myoclonic 51 test
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders5 tests
  • Epileptic encephalopathy, early infantile, 16 tests
  • Epileptic encephalopathy, early infantile, 191 test
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness7 tests
  • Episodic ataxia1 test
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 21 test
  • Episodic ataxia, type 53 tests
  • Episodic ataxia, type 61 test
  • Epstein syndrome1 test
  • Erythrocyte amp deaminase deficiency4 tests
  • Erythrocytosis, familial, 22 tests
  • Erythrokeratodermia variabilis1 test
  • Essential thrombocythemia2 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative vitreoretinopathy 46 tests
  • Exudative vitreoretinopathy 53 tests
  • Fabry's disease12 tests
  • Facioscapulohumeral muscular dystrophy 21 test
  • Failure of tooth eruption, primary2 tests
  • Familial adenomatous polyposis 13 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial fibrillation1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast2 tests
  • Familial cold urticaria1 test
  • Familial colorectal cancer6 tests
  • Familial dysautonomia4 tests
  • Familial expansile osteolysis3 tests
  • Familial exudative vitreoretinopathy2 tests
  • Familial exudative vitreoretinopathy, X-linked5 tests
  • Familial febrile seizures 82 tests
  • Familial gynecomastia, due to increased aromatase activity1 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 22 tests
  • Familial hemiplegic migraine type 35 tests
  • Familial hyperaldosteronism type 32 tests
  • Familial hypercholesterolemia1 test
  • Familial hypertrophic cardiomyopathy 19 tests
  • Familial hypertrophic cardiomyopathy 103 tests
  • Familial hypertrophic cardiomyopathy 113 tests
  • Familial hypertrophic cardiomyopathy 122 tests
  • Familial hypertrophic cardiomyopathy 133 tests
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 152 tests
  • Familial hypertrophic cardiomyopathy 162 tests
  • Familial hypertrophic cardiomyopathy 172 tests
  • Familial hypertrophic cardiomyopathy 182 tests
  • Familial hypertrophic cardiomyopathy 23 tests
  • Familial hypertrophic cardiomyopathy 202 tests
  • Familial hypertrophic cardiomyopathy 231 test
  • Familial hypertrophic cardiomyopathy 33 tests
  • Familial hypertrophic cardiomyopathy 43 tests
  • Familial hypertrophic cardiomyopathy 64 tests
  • Familial hypertrophic cardiomyopathy 73 tests
  • Familial hypertrophic cardiomyopathy 83 tests
  • Familial hypertrophic cardiomyopathy 97 tests
  • Familial hypoplastic, glomerulocystic kidney2 tests
  • Familial infantile myasthenia2 tests
  • Familial juvenile gout1 test
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant3 tests
  • Familial medullary thyroid carcinoma4 tests
  • Familial multiple polyposis syndrome4 tests
  • Familial pancreatic carcinoma1 test
  • Familial porencephaly2 tests
  • Familial restrictive cardiomyopathy 13 tests
  • Familial restrictive cardiomyopathy 33 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia, complementation group B3 tests
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D11 test
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group N3 tests
  • Fanconi anemia, complementation group O1 test
  • Fanconi's anemia2 tests
  • Fanconi-Bickel syndrome3 tests
  • Farber's lipogranulomatosis1 test
  • Favism, susceptibility to1 test
  • Febrile seizures, familial, 112 tests
  • Febrile seizures, familial, 46 tests
  • Fechtner syndrome1 test
  • Feingold syndrome 13 tests
  • FG syndrome5 tests
  • FG syndrome 29 tests
  • FG syndrome 45 tests
  • Fibrochondrogenesis7 tests
  • Fibrochondrogenesis 25 tests
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement2 tests
  • Fibular hypoplasia and complex brachydactyly3 tests
  • Fleck retina, familial benign3 tests
  • FLNA related disorders1 test
  • Floating-Harbor syndrome1 test
  • Focal cortical dysplasia of Taylor5 tests
  • Focal dermal hypoplasia3 tests
  • Focal epilepsy with speech disorder with or without mental retardation2 tests
  • Foveal hypoplasia and presenile cataract syndrome3 tests
  • Fragile X syndrome9 tests
  • Fragile X tremor/ataxia syndrome3 tests
  • Frank Ter Haar syndrome2 tests
  • Frasier syndrome2 tests
  • FRAXE6 tests
  • Friedreich ataxia 11 test
  • Frontometaphyseal dysplasia8 tests
  • Frontotemporal dementia, ubiquitin-positive3 tests
  • Fructose-biphosphatase deficiency2 tests
  • Fucosidosis7 tests
  • Fuhrmann syndrome2 tests
  • Fukuyama congenital muscular dystrophy12 tests
  • Fumarase deficiency4 tests
  • Galactosemia3 tests
  • Galactosylceramide beta-galactosidase deficiency7 tests
  • Gallbladder disease 41 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Ganglioside sialidase deficiency6 tests
  • Gangliosidosis GM1 type 32 tests
  • Gardner syndrome2 tests
  • Gastrointestinal Stromal Tumors3 tests
  • Gaucher disease10 tests
  • Gaucher disease type 3C2 tests
  • Gaucher disease, atypical, due to saposin C deficiency3 tests
  • Gaucher disease, perinatal lethal2 tests
  • Gaucher's disease, type 12 tests
  • Geleophysic dysplasia 26 tests
  • Generalized epilepsy and paroxysmal dyskinesia2 tests
  • Generalized epilepsy with febrile seizures plus, type 15 tests
  • Generalized epilepsy with febrile seizures plus, type 25 tests
  • Generalized epilepsy with febrile seizures plus, type 72 tests
  • Geroderma osteodysplastica2 tests
  • Ghosal syndrome2 tests
  • Giant axonal neuropathy1 test
  • Gilbert's syndrome1 test
  • Gingival fibromatosis 15 tests
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
  • Glaucoma, congenital2 tests
  • Glaucoma, normal tension, susceptibility to1 test
  • Glioma susceptibility 31 test
  • Global developmental delay4 tests
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria1 test
  • Glucose 6 phosphate dehydrogenase deficiency2 tests
  • Glucose transporter type 1 deficiency syndrome5 tests
  • Glucose-6-phosphate transport defect5 tests
  • Glutamate formiminotransferase deficiency2 tests
  • Glutaric aciduria, type 14 tests
  • Glutaric aciduria, type 23 tests
  • Glycogen storage disease2 tests
  • Glycogen storage disease 0, muscle3 tests
  • GLYCOGEN STORAGE DISEASE II, ADULT FORM1 test
  • Glycogen storage disease IIIa1 test
  • Glycogen storage disease IXb3 tests
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease of heart, lethal congenital5 tests
  • Glycogen storage disease type 133 tests
  • Glycogen storage disease type 1A4 tests
  • Glycogen storage disease type III4 tests
  • Glycogen storage disease type IXa12 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease, type II14 tests
  • Glycogen storage disease, type IV4 tests
  • Glycogen storage disease, type V10 tests
  • Glycogen storage disease, type VI3 tests
  • Glycogen storage disease, type VII3 tests
  • Glycosylphosphatidylinositol deficiency1 test
  • GM1 Gangliosidosis5 tests
  • GM2-gangliosidosis, B, B1, AB variant1 test
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance2 tests
  • Gonadotropin-independent familial sexual precocity1 test
  • Gorlin syndrome3 tests
  • GRACILE syndrome1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Grebe syndrome3 tests
  • Greig cephalopolysyndactyly syndrome4 tests
  • Growth hormone insensitivity with immunodeficiency3 tests
  • Guillain-Barre syndrome, familial1 test
  • Haim-Munk syndrome1 test
  • Hajdu-Cheney syndrome3 tests
  • Hamartoma of hypothalamus4 tests
  • Hay-Wells syndrome of ectodermal dysplasia2 tests
  • Hb SS disease1 test
  • Heart-hand syndrome, Slovenian type9 tests
  • Heme oxygenase 1 deficiency1 test
  • Hemochromatosis type 13 tests
  • Hemophagocytic lymphohistiocytosis, familial, 21 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hepatic adenomas, familial2 tests
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatocellular carcinoma1 test
  • Hereditary diffuse gastric cancer7 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemorrhagic telangiectasia type 23 tests
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer4 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary mixed polyposis syndrome 12 tests
  • Hereditary mixed polyposis syndrome 21 test
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary myopathy with early respiratory failure5 tests
  • Hereditary nonpolyposis colorectal cancer type 48 tests
  • Hereditary nonpolyposis colorectal cancer type 511 tests
  • Hereditary nonpolyposis colorectal cancer type 63 tests
  • Hereditary pancreatitis5 tests
  • Hereditary sensory and autonomic neuropathy type IIA1 test
  • Hereditary sensory and autonomic neuropathy type IIB1 test
  • Hermansky Pudlak syndrome 22 tests
  • Hermansky-Pudlak syndrome1 test
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 43 tests
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 63 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, X-linked1 test
  • Heterotopia, periventricular, autosomal recessive2 tests
  • Heterotopia, periventricular, Ehlers-Danlos variant8 tests
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Hirschsprung disease ganglioneuroblastoma1 test
  • Histiocytic medullary reticulosis2 tests
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • Holocarboxylase synthetase deficiency3 tests
  • Holoprosencephaly 101 test
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 73 tests
  • Holoprosencephaly 92 tests
  • Holt-Oram syndrome2 tests
  • Homocysteinemia due to MTHFR deficiency1 test
  • Homocystinuria1 test
  • Homocystinuria due to CBS deficiency8 tests
  • Homocystinuria, cblD type, variant 11 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • Huntington's chorea1 test
  • Hurler syndrome2 tests
  • Hutchinson-Gilford syndrome9 tests
  • Hydatidiform mole1 test
  • Hydrolethalus syndrome 11 test
  • Hydrolethalus syndrome 27 tests
  • Hyperammonemia, type III1 test
  • Hypercholanemia, familial2 tests
  • Hyperhomocysteinemia1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperimmunoglobulin E syndrome2 tests
  • Hyperinsulinemic hypoglycemia familial 32 tests
  • Hyperinsulinemic hypoglycemia familial 52 tests
  • Hyperinsulinemic hypoglycemia, familial, 43 tests
  • Hyperkalemic Periodic Paralysis Type 12 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 21 test
  • Hyperparathyroidism, neonatal severe primary3 tests
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with mental retardation syndrome 13 tests
  • Hyperphosphatasia with mental retardation syndrome 21 test
  • Hypertrichotic osteochondrodysplasia1 test
  • Hypocalcemia, autosomal dominant 13 tests
  • Hypocalciuric hypercalcemia, familial, type 13 tests
  • Hypoceruloplasminemia1 test
  • Hypochondroplasia4 tests
  • Hypoglycemia with deficiency of glycogen synthetase in the liver3 tests
  • Hypoglycemia, neonatal, simulating foetopathia diabetica1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia1 test
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomyelination, global cerebral2 tests
  • Hypoparathyroidism retardation dysmorphism syndrome3 tests
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive2 tests
  • Hypoplastic left heart syndrome 26 tests
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hystrix-like ichthyosis with deafness1 test
  • I cell disease4 tests
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation2 tests
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic fibrosing alveolitis, chronic form2 tests
  • Idiopathic generalized epilepsy1 test
  • IFAP syndrome with or without BRESHECK syndrome3 tests
  • Ige responsiveness, atopic1 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 22 tests
  • Immunodeficiency 132 tests
  • Immunodeficiency 182 tests
  • Immunodeficiency 192 tests
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency with hyper IgM type 11 test
  • Immunodeficiency with hyper IgM type 21 test
  • Inclusion body myopathy 25 tests
  • Inclusion body myopathy 31 test
  • Indifference to pain, congenital, autosomal recessive2 tests
  • Infantile convulsions and paroxysmal choreoathetosis, familial2 tests
  • Infantile cortical hyperostosis5 tests
  • Infantile GM1 gangliosidosis2 tests
  • Infantile hypophosphatasia1 test
  • Infantile myofibromatosis 11 test
  • Infantile nephronophthisis8 tests
  • Infantile Parkinsonism-dystonia1 test
  • Infantile Refsum's disease2 tests
  • Infertility4 tests
  • Infertility due to oligospermia2 tests
  • Inflammatory bowel disease 11 test
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
  • Insulin-like growth factor 1 resistance to1 test
  • Insulin-like growth factor I deficiency1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
  • Intellectual functioning disability4 tests
  • Interfrontal craniofaciosynostosis3 tests
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Intermediate maple syrup urine disease type 21 test
  • Intestinal pseudoobstruction neuronal chronic idiopathic X-linked8 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies3 tests
  • Irido-corneo-trabecular dysgenesis6 tests
  • Iridogoniodysgenesis type13 tests
  • Iridogoniodysgenesis, dominant type4 tests
  • Iris coloboma with ptosis, hypertelorism, and mental retardation2 tests
  • Islet cell hyperplasia2 tests
  • Isolated growth hormone deficiency type 1B2 tests
  • Isolated lutropin deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency4 tests
  • IVIC syndrome3 tests
  • Jackson-Weiss syndrome4 tests
  • Jankovic Rivera syndrome1 test
  • Jensen syndrome7 tests
  • Jervell and Lange-Nielsen syndrome5 tests
  • Jervell and Lange-Nielsen syndrome 25 tests
  • Joubert syndrome 105 tests
  • Joubert syndrome 133 tests
  • Joubert syndrome 145 tests
  • Joubert syndrome 155 tests
  • Joubert syndrome 163 tests
  • Joubert syndrome 173 tests
  • Joubert syndrome 184 tests
  • Joubert syndrome 29 tests
  • Joubert syndrome 201 test
  • Joubert syndrome 35 tests
  • Joubert syndrome 49 tests
  • Joubert syndrome 511 tests
  • Joubert syndrome 66 tests
  • Joubert syndrome 77 tests
  • Joubert syndrome 83 tests
  • Joubert syndrome 98 tests
  • Juvenile GM>1< gangliosidosis2 tests
  • Juvenile macular degeneration and hypotrichosis4 tests
  • Juvenile myelomonocytic leukemia7 tests
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
  • Juvenile nephropathic cystinosis1 test
  • Juvenile neuronal ceroid lipofuscinosis8 tests
  • Juvenile polyposis of infancy1 test
  • Juvenile polyposis syndrome4 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome6 tests
  • Juvenile retinoschisis2 tests
  • Juvenile-onset dystonia2 tests
  • Kabuki make-up syndrome2 tests
  • Kabuki syndrome1 test
  • Kabuki syndrome 21 test
  • Kahrizi syndrome1 test
  • Kallmann syndrome 23 tests
  • Kallmann syndrome 31 test
  • Kallmann syndrome 41 test
  • Kallmann syndrome 52 tests
  • Kallmann syndrome 62 tests
  • Kanzaki disease4 tests
  • Kartagener syndrome3 tests
  • Kearns Sayre syndrome3 tests
  • Kenny-Caffey syndrome type 13 tests
  • Keratitis, hereditary3 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Keratoderma palmoplantar deafness1 test
  • KERATOSIS PALMOPLANTARIS STRIATA II3 tests
  • Keratosis pilaris decalvans1 test
  • Keratosis, seborrheic1 test
  • Keutel syndrome2 tests
  • Klinefelter's syndrome, XXY1 test
  • Kniest dysplasia7 tests
  • Known OR suspected fetal abnormality affecting management of mother1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Kowarski syndrome1 test
  • Krabbe disease atypical due to Saposin A deficiency3 tests
  • L-2-hydroxyglutaric aciduria1 test
  • L1 Syndrome2 tests
  • Lafora disease2 tests
  • Langer mesomelic dysplasia syndrome4 tests
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome, dominant type2 tests
  • Late-onset retinal degeneration3 tests
  • Lchad deficiency with maternal acute fatty liver of pregnancy1 test
  • Leber congenital amaurosis 15 tests
  • Leber congenital amaurosis 1011 tests
  • Leber congenital amaurosis 114 tests
  • Leber congenital amaurosis 123 tests
  • Leber congenital amaurosis 135 tests
  • Leber congenital amaurosis 144 tests
  • Leber congenital amaurosis 154 tests
  • Leber congenital amaurosis 164 tests
  • Leber congenital amaurosis 24 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 45 tests
  • Leber congenital amaurosis 53 tests
  • Leber congenital amaurosis 66 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 84 tests
  • Leber's amaurosis1 test
  • Leber's optic atrophy1 test
  • Left ventricular noncompaction1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 103 tests
  • Left ventricular noncompaction 63 tests
  • Legius syndrome2 tests
  • Leigh syndrome due to mitochondrial complex I deficiency2 tests
  • Leigh syndrome, French Canadian type1 test
  • Leigh's disease5 tests
  • Lenz microphthalmia syndrome1 test
  • LEOPARD syndrome2 tests
  • LEOPARD syndrome 18 tests
  • LEOPARD syndrome 25 tests
  • LEOPARD syndrome 33 tests
  • Leprechaunism syndrome2 tests
  • Leri Weill dyschondrosteosis4 tests
  • Lesch-Nyhan syndrome3 tests
  • Lethal arthrogryposis with anterior horn cell disease1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 52 tests
  • Lethal Kniest-like syndrome2 tests
  • Lethal multiple pterygium syndrome2 tests
  • Lethal tight skin contracture syndrome11 tests
  • Leucine-induced hypoglycemia1 test
  • LEUKOCYTE ADHESION DEFICIENCY, TYPE III2 tests
  • Leukoencephalopathy with dystonia and motor neuropathy1 test
  • Leukoencephalopathy with vanishing white matter12 tests
  • Levy-Hollister syndrome4 tests
  • Leydig cell agenesis1 test
  • Li-Fraumeni syndrome9 tests
  • Li-Fraumeni syndrome 13 tests
  • Li-Fraumeni syndrome 21 test
  • Liebenberg syndrome2 tests
  • Lig4 syndrome2 tests
  • Limb deficiencies distal with micrognathia2 tests
  • Limb-girdle muscular dystrophy2 tests
  • Limb-girdle muscular dystrophy, type 1A5 tests
  • Limb-girdle muscular dystrophy, type 1B11 tests
  • Limb-girdle muscular dystrophy, type 1C9 tests
  • Limb-girdle muscular dystrophy, type 2A8 tests
  • Limb-girdle muscular dystrophy, type 2B5 tests
  • Limb-girdle muscular dystrophy, type 2D7 tests
  • Limb-girdle muscular dystrophy, type 2E7 tests
  • Limb-girdle muscular dystrophy, type 2F9 tests
  • Limb-girdle muscular dystrophy, type 2G7 tests
  • Limb-girdle muscular dystrophy, type 2J5 tests
  • Limb-girdle muscular dystrophy, type 2L8 tests
  • Limb-girdle muscular dystrophy, type 2Q3 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C110 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C210 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C38 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C410 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C511 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C93 tests
  • Limb-mammary syndrome2 tests
  • Lipodystrophy with congenital cataracts and neurodegeneration2 tests
  • Lipodystrophy, congenital generalized, type 32 tests
  • Lipodystrophy, congenital generalized, type 42 tests
  • Lipodystrophy, familial partial, type 29 tests
  • Lipodystrophy, familial partial, type 31 test
  • Lipodystrophy, familial partial, type 51 test
  • Lissencephaly 16 tests
  • Lissencephaly 26 tests
  • Lissencephaly 2, X-linked5 tests
  • Lissencephaly 32 tests
  • Lissencephaly 42 tests
  • Lissencephaly, X-linked6 tests
  • Liver failure acute infantile1 test
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 33 tests
  • Loeys-Dietz syndrome 42 tests
  • Long QT syndrome1 test
  • Long QT syndrome 15 tests
  • Long QT syndrome 103 tests
  • Long QT syndrome 113 tests
  • Long QT syndrome 123 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 24 tests
  • Long QT syndrome 36 tests
  • Long QT syndrome 55 tests
  • Long QT syndrome 64 tests
  • Long QT syndrome 97 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency3 tests
  • Lowe syndrome3 tests
  • Lucey-Driscoll syndrome1 test
  • Lung cancer2 tests
  • Lymphangiomyomatosis5 tests
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome1 test
  • Lynch syndrome I10 tests
  • Lynch syndrome II10 tests
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency4 tests
  • Macrocephaly/autism syndrome6 tests
  • Macrothrombocytopenia and progressive sensorineural deafness1 test
  • Macular corneal dystrophy Type I1 test
  • Macular degeneration, X-linked atrophic7 tests
  • Macular dystrophy, vitelliform, adult-onset5 tests
  • Majeed syndrome1 test
  • Male infertility2 tests
  • Malignant hyperthermia susceptibility type 14 tests
  • Malignant lymphoma, non-Hodgkin1 test
  • Malignant melanoma of skin1 test
  • Malignant tumor of esophagus3 tests
  • Malignant tumor of prostate3 tests
  • Malignant tumor of testis5 tests
  • Malignant tumor of urinary bladder3 tests
  • Malouf syndrome9 tests
  • Mandibuloacral dysostosis9 tests
  • Mandibuloacral dysplasia with type B lipodystrophy5 tests
  • Maple syrup urine disease6 tests
  • Maple syrup urine disease type 1B2 tests
  • Maple syrup urine disease, type 34 tests
  • Marfan's syndrome7 tests
  • Marinesco-Sjögren syndrome5 tests
  • Marles Greenberg Persaud syndrome2 tests
  • Marshall syndrome6 tests
  • Marshall-Smith syndrome1 test
  • Martsolf syndrome2 tests
  • MASS syndrome6 tests
  • Mast syndrome1 test
  • Maturity-onset diabetes of the young, type 12 tests
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 32 tests
  • Maturity-onset diabetes of the young, type 42 tests
  • Maturity-onset diabetes of the young, type 61 test
  • Maturity-onset diabetes of the young, type 71 test
  • Maturity-onset diabetes of the young, type 91 test
  • May-Hegglin anomaly1 test
  • McCune-Albright syndrome3 tests
  • McKusick Kaufman syndrome3 tests
  • Meacham syndrome2 tests
  • Meckel syndrome type 18 tests
  • Meckel syndrome type 27 tests
  • Meckel syndrome type 36 tests
  • Meckel syndrome type 411 tests
  • Meckel syndrome type 57 tests
  • Meckel syndrome type 68 tests
  • Meckel syndrome type 76 tests
  • Meckel syndrome type 83 tests
  • Meckel syndrome, type 101 test
  • Meckel syndrome, type 111 test
  • Meckel syndrome, type 91 test
  • MECP2 duplication syndrome4 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency6 tests
  • Medullary cystic kidney disease 23 tests
  • Medulloblastoma2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Melanoma astrocytoma syndrome1 test
  • Melanoma-pancreatic cancer syndrome4 tests
  • Melnick-Fraser syndrome1 test
  • Melnick-Needles syndrome8 tests
  • Melorheostosis2 tests
  • Meningioma, familial4 tests
  • Menkes kinky-hair syndrome4 tests
  • Mental retardation 17, X-linked3 tests
  • Mental retardation 21, X-linked3 tests
  • Mental retardation 3, X-linked1 test
  • Mental retardation 30, X-linked3 tests
  • Mental retardation 46, X-linked2 tests
  • Mental retardation 58, X-linked3 tests
  • Mental retardation 63, X-linked3 tests
  • Mental retardation 9, X-linked3 tests
  • Mental retardation 91, X-linked3 tests
  • Mental retardation 92, X-linked2 tests
  • Mental retardation 95, X-linked2 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia5 tests
  • Mental retardation with language impairment and autistic features3 tests
  • Mental retardation with panhypopituitarism, X-linked4 tests
  • Mental retardation X-linked syndromic 55 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance7 tests
  • Mental retardation, autosomal dominant 15 tests
  • Mental retardation, autosomal dominant 151 test
  • Mental retardation, autosomal dominant 22 tests
  • Mental retardation, autosomal dominant 61 test
  • Mental retardation, autosomal recessive 123 tests
  • Mental retardation, autosomal recessive 151 test
  • Mental retardation, autosomal recessive 73 tests
  • Mental retardation, CASK-related, X-linked2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations6 tests
  • Mental retardation, syndromic 14, X-linked2 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked4 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked7 tests
  • Mental retardation, X-linked 142 tests
  • Mental retardation, X-linked 193 tests
  • Mental retardation, X-linked 452 tests
  • Mental retardation, X-linked 724 tests
  • Mental retardation, X-linked 933 tests
  • Mental retardation, X-linked 963 tests
  • Mental retardation, X-linked 981 test
  • Mental retardation, X-linked, nonspecific1 test
  • Mental retardation, X-linked, syndromic 101 test
  • Mental retardation, X-linked, syndromic 134 tests
  • Mental retardation, X-linked, syndromic 321 test
  • Mental retardation, X-linked, syndromic, Hedera type5 tests
  • Mental retardation, X-linked, syndromic, raymond type3 tests
  • Mental retardation, X-linked, syndromic, turner type3 tests
  • Mental retardation, X-linked, syndromic, wu type3 tests
  • Mental retardation-hypotonic facies syndrome X-linked, 14 tests
  • Merosin deficient congenital muscular dystrophy6 tests
  • Mesothelioma, malignant2 tests
  • Metabolic syndrome X1 test
  • Metachondromatosis6 tests
  • Metachromatic leukodystrophy6 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatrophic dysplasia2 tests
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE1 test
  • Methylcrotonyl-CoA carboxylase deficiency2 tests
  • Methylmalonic acidemia2 tests
  • Methylmalonic acidemia with homocystinuria5 tests
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE1 test
  • Methylmalonic aciduria cblA type3 tests
  • Methylmalonic aciduria cblB type3 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
  • METHYLMALONIC ACIDURIA, mut(0) TYPE2 tests
  • Methylmalonyl-CoA epimerase deficiency1 test
  • Mevalonic aciduria2 tests
  • Michels syndrome1 test
  • Microcephalic osteodysplastic primordial dwarfism type 23 tests
  • Microcephaly 10, primary, autosomal recessive1 test
  • Microcephaly 9, primary, autosomal recessive1 test
  • Microcephaly with mental retardation and digital anomalies1 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microdeletion syndromes2 tests
  • Microduplication syndromes2 tests
  • Microhydranencephaly2 tests
  • Microphthalmia syndromic 33 tests
  • Microphthalmia syndromic 53 tests
  • Microphthalmia syndromic 62 tests
  • Microphthalmia syndromic 92 tests
  • Microphthalmia, isolated 22 tests
  • Microphthalmia, isolated 52 tests
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 54 tests
  • Microphthalmia, syndromic 112 tests
  • Microphthalmia, syndromic, 75 tests
  • Microspherophakia1 test
  • Minicore myopathy with external ophthalmoplegia2 tests
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • Mitochondrial complex I deficiency5 tests
  • Mitochondrial complex II deficiency2 tests
  • Mitochondrial complex III deficiency2 tests
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex III deficiency, nuclear type 31 test
  • Mitochondrial complex III deficiency, nuclear type 41 test
  • Mitochondrial diseases5 tests
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type5 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial myopathy1 test
  • Mitochondrial trifunctional protein deficiency3 tests
  • Miyoshi muscular dystrophy 15 tests
  • Miyoshi muscular dystrophy 38 tests
  • Mohr-Tranebjaerg syndrome7 tests
  • Monoamine oxidase A deficiency3 tests
  • Mononeuropathy of the median nerve, mild1 test
  • Morbid obesity1 test
  • Morquio syndrome1 test
  • Mowat-Wilson syndrome5 tests
  • Moyamoya disease 53 tests
  • Mucolipidosis II3 tests
  • MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL1 test
  • Mucolipidosis III Gamma1 test
  • Mucopolysaccharidosis4 tests
  • Mucopolysaccharidosis type I4 tests
  • Mucopolysaccharidosis type VI8 tests
  • Mucopolysaccharidosis type VII6 tests
  • Mucopolysaccharidosis, MPS-I-H/S3 tests
  • Mucopolysaccharidosis, MPS-I-S2 tests
  • Mucopolysaccharidosis, MPS-II7 tests
  • Mucopolysaccharidosis, MPS-III-A5 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D3 tests
  • Mucopolysaccharidosis, MPS-IV-A6 tests
  • Mucopolysaccharidosis, MPS-IV-B6 tests
  • Muenke syndrome4 tests
  • Muir-Torré syndrome18 tests
  • Mulibrey nanism syndrome1 test
  • Multicentric osteolysis nephropathy2 tests
  • Multicentric osteolysis, nodulosis and arthropathy2 tests
  • Multiminicore Disease2 tests
  • Multiple congenital anomalies10 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital exostosis3 tests
  • Multiple endocrine neoplasia, type 15 tests
  • Multiple endocrine neoplasia, type 22 tests
  • Multiple endocrine neoplasia, type 2a9 tests
  • Multiple endocrine neoplasia, type 2b8 tests
  • Multiple epiphyseal dysplasia 13 tests
  • Multiple epiphyseal dysplasia 25 tests
  • Multiple epiphyseal dysplasia 33 tests
  • Multiple epiphyseal dysplasia 43 tests
  • Multiple epiphyseal dysplasia 53 tests
  • Multiple epiphyseal dysplasia 66 tests
  • Multiple exostoses type 23 tests
  • Multiple fibrofolliculomas6 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Multiple myeloma1 test
  • Multiple pterygium syndrome Escobar type1 test
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 23 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency6 tests
  • Muscle eye brain disease10 tests
  • Muscular dystrophy1 test
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency7 tests
  • Muscular dystrophy, congenital, megaconial type1 test
  • Muscular dystrophy, limb-girdle, type 2r3 tests
  • Muscular hypotonia1 test
  • Mutilating keratoderma2 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, fast-channel2 tests
  • Myasthenic syndrome, congenital, with tubular aggregates 21 test
  • Myasthenic syndrome, slow-channel congenital2 tests
  • MYH-associated polyposis4 tests
  • Myhre syndrome2 tests
  • Myoclonic dystonia5 tests
  • Myoclonic epilepsy, familial infantile2 tests
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myofibrillar myopathy2 tests
  • Myofibrillar myopathy 13 tests
  • Myofibrillar myopathy, BAG3-related2 tests
  • Myofibrillar myopathy, filamin C-related2 tests
  • Myofibrillar myopathy, ZASP-related3 tests
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myokymia 11 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, centronuclear, 12 tests
  • Myopathy, distal, 14 tests
  • Myopathy, distal, 42 tests
  • Myopathy, distal, with anterior tibial onset3 tests
  • Myopathy, early-onset, with fatal cardiomyopathy5 tests
  • Myopathy, myosin storage3 tests
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopia 61 test
  • Myosclerosis, autosomal recessive7 tests
  • Myotilinopathy3 tests
  • Myotonic dystrophy2 tests
  • N-terminal acetyltransferase deficiency1 test
  • Nance-Horan syndrome4 tests
  • Nanophthalmos 22 tests
  • Nasopharyngeal carcinoma1 test
  • Navajo neurohepatopathy1 test
  • Naxos disease3 tests
  • Nemaline myopathy2 tests
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 26 tests
  • Nemaline myopathy 34 tests
  • Nemaline myopathy 44 tests
  • Nemaline myopathy 54 tests
  • Nemaline myopathy 71 test
  • Neonatal adrenoleucodystrophy2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
  • Neoplasm of ovary1 test
  • Neoplasm of stomach4 tests
  • Nephroblastoma2 tests
  • Nephronophthisis 111 tests
  • Nephronophthisis 116 tests
  • Nephronophthisis 123 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 143 tests
  • Nephronophthisis 151 test
  • Nephronophthisis 48 tests
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephrotic syndrome1 test
  • Netherton syndrome1 test
  • Neuroblastoma 23 tests
  • Neuroblastoma 32 tests
  • Neurocutaneous melanosis1 test
  • Neurodegeneration with brain iron accumulation2 tests
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis1 test
  • Neuropathy ataxia retinitis pigmentosa syndrome1 test
  • Neuropathy hereditary sensory and autonomic type 11 test
  • NEUROPATHY, HEREDITARY SENSORY, TYPE ID1 test
  • NEUROPATHY, HEREDITARY SENSORY, TYPE IE1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland rod-cone dystrophy3 tests
  • Niemann-Pick disease type C15 tests
  • Niemann-Pick disease type C26 tests
  • Niemann-Pick disease, type A8 tests
  • Niemann-Pick disease, type B6 tests
  • Niemann-Pick disease, type C2 tests
  • NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM2 tests
  • NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM2 tests
  • Non-ketotic hyperglycinemia1 test
  • Non-syndromic X-linked intellectual disability3 tests
  • Nonaka myopathy5 tests
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive3 tests
  • Noonan syndrome 18 tests
  • Noonan syndrome 34 tests
  • Noonan syndrome 45 tests
  • Noonan syndrome 55 tests
  • Noonan syndrome 64 tests
  • Noonan syndrome 75 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Noonan's syndrome3 tests
  • Noonan-like syndrome with loose anagen hair3 tests
  • NSDHL-Related Disorders3 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 12 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22 tests
  • Nystagmus 6, congenital, X-linked2 tests
  • Obesity3 tests
  • Obesity, hyperphagia, and developmental delay1 test
  • Obsessive-compulsive disorder2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II3 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 42 tests
  • Oculocutaneous albinism type 71 test
  • Oculofaciocardiodental syndrome5 tests
  • Oculopharyngeal muscular dystrophy2 tests
  • Oguchi's disease3 tests
  • Ohdo syndrome, X-linked6 tests
  • Omodysplasia 12 tests
  • Opitz-Frias syndrome4 tests
  • Optic atrophy3 tests
  • Optic atrophy 72 tests
  • Optic atrophy and cataract, autosomal dominant5 tests
  • Optic Atrophy Type 12 tests
  • Optic nerve hypoplasia, bilateral4 tests
  • Oral-facial-digital syndrome7 tests
  • Ornithine aminotransferase deficiency1 test
  • Ornithine carbamoyltransferase deficiency5 tests
  • Orofacial cleft 112 tests
  • Orofacial-digital syndrome IV4 tests
  • Osler hemorrhagic telangiectasia syndrome4 tests
  • Ossification of the posterior longitudinal ligament of the spine5 tests
  • Osteitis deformans3 tests
  • Osteoarthritis of hip3 tests
  • Osteoarthritis with mild chondrodysplasia7 tests
  • Osteogenesis imperfecta Levin type8 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 112 tests
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 62 tests
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I5 tests
  • Osteogenesis imperfecta type III5 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form5 tests
  • Osteogenesis imperfecta, recessive perinatal lethal5 tests
  • Osteoglophonic dysplasia3 tests
  • Osteopetrosis autosomal dominant type 15 tests
  • Osteopetrosis autosomal dominant type 22 tests
  • Osteopetrosis autosomal recessive 12 tests
  • Osteopetrosis autosomal recessive 22 tests
  • Osteopetrosis autosomal recessive 42 tests
  • Osteopetrosis autosomal recessive 52 tests
  • Osteopetrosis autosomal recessive 73 tests
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteoporosis7 tests
  • Osteoporosis with pseudoglioma5 tests
  • Osteosarcoma2 tests
  • Oto-palato-digital syndrome, type I8 tests
  • Oto-palato-digital syndrome, type II8 tests
  • Otofaciocervical syndrome1 test
  • Otospondylomegaepiphyseal dysplasia8 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Ovarian dysgenesis 31 test
  • Ovarian hyperstimulation syndrome1 test
  • Pachydermoperiostosis syndrome2 tests
  • Pallister-Hall syndrome4 tests
  • Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
  • Pancreatic agenesis and congenital heart disease1 test
  • Pancreatic agenesis, congenital2 tests
  • Pancreatic cancer 21 test
  • Pancreatic cancer 31 test
  • Panhypopituitarism X-linked2 tests
  • Papillary thyroid carcinoma3 tests
  • Paraganglioma and gastric stromal sarcoma3 tests
  • Paragangliomas 13 tests
  • Paragangliomas 24 tests
  • Paragangliomas 34 tests
  • Paragangliomas 45 tests
  • Paramyotonia congenita of von Eulenburg2 tests
  • Parastremmatic dwarfism2 tests
  • Parathyroid carcinoma1 test
  • Parkes Weber syndrome1 test
  • Parkinson disease 151 test
  • Parkinson disease 61 test
  • Parkinson disease 92 tests
  • Parkinsonism with spasticity, X-linked3 tests
  • Parkinsonism, early onset with mental retardation1 test
  • Paroxysmal extreme pain disorder2 tests
  • Paroxysmal familial ventricular fibrillation6 tests
  • Paroxysmal nocturnal hemoglobinuria 11 test
  • Paroxysmal nonkinesigenic dyskinesia 21 test
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
  • Partington X-linked mental retardation syndrome5 tests
  • Patterned dystrophy of retinal pigment epithelium5 tests
  • Pearson's syndrome1 test
  • Pelizaeus-Merzbacher disease4 tests
  • Pena-Shokeir syndrome type I2 tests
  • Pendred's syndrome2 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss1 test
  • Permanent neonatal diabetes mellitus3 tests
  • Peroxisome biogenesis disorder 10A2 tests
  • Peroxisome biogenesis disorder 11A2 tests
  • Peroxisome biogenesis disorder 11B2 tests
  • Peroxisome biogenesis disorder 12A2 tests
  • Peroxisome biogenesis disorder 13A2 tests
  • Peroxisome biogenesis disorder 14B2 tests
  • Peroxisome biogenesis disorder 1B3 tests
  • Peroxisome biogenesis disorder 2A2 tests
  • Peroxisome biogenesis disorder 3A2 tests
  • Peroxisome biogenesis disorder 4A2 tests
  • Peroxisome biogenesis disorder 4B2 tests
  • Peroxisome biogenesis disorder 5A2 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A2 tests
  • Peroxisome biogenesis disorder 6B2 tests
  • Peroxisome biogenesis disorder 7A2 tests
  • Peroxisome biogenesis disorder 7B2 tests
  • Peroxisome biogenesis disorder 8A2 tests
  • Peroxisome biogenesis disorder 8B2 tests
  • Peroxisome biogenesis disorder 9B5 tests
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum16 tests
  • Perrault syndrome 21 test
  • Perry syndrome1 test
  • Persistent hyperinsulinemic hypoglycemia of infancy1 test
  • Peters plus syndrome4 tests
  • Peutz-Jeghers syndrome8 tests
  • Pfeiffer syndrome4 tests
  • Phenylketonuria4 tests
  • Pheochromocytoma10 tests
  • Phosphate transport defect4 tests
  • Phosphoglycerate kinase 1 deficiency3 tests
  • Phosphoribosylpyrophosphate synthetase superactivity3 tests
  • Phytanic acid storage disease2 tests
  • Pigmentary retinal dystrophy6 tests
  • Pigmented nodular adrenocortical disease, primary, 13 tests
  • Pigmented paravenous chorioretinal atrophy4 tests
  • Pili torti-deafness syndrome1 test
  • Pilomatrixoma1 test
  • Pineal hyperplasia AND diabetes mellitus syndrome2 tests
  • Pitt-Hopkins syndrome5 tests
  • Pitt-Hopkins-like syndrome 12 tests
  • Pitt-Hopkins-like syndrome 25 tests
  • Pituitary hormone deficiency, combined 11 test
  • Pituitary hormone deficiency, combined 22 tests
  • Pituitary hormone deficiency, combined 31 test
  • Pituitary hormone deficiency, combined 63 tests
  • Platyspondylic lethal skeletal dysplasia Torrance type7 tests
  • Pneumothorax, primary spontaneous3 tests
  • Polycystic kidney disease 22 tests
  • Polycystic kidney disease, adult type2 tests
  • Polycystic kidney disease, infantile type4 tests
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy3 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyglucosan body disease, adult4 tests
  • Polymicrogyria with optic nerve hypoplasia2 tests
  • Polymicrogyria with seizures2 tests
  • Polymicrogyria, asymmetric2 tests
  • Polymicrogyria, bilateral frontoparietal3 tests
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract3 tests
  • Pontocerebellar hypoplasia type 13 tests
  • Pontocerebellar hypoplasia type 2A3 tests
  • Pontocerebellar hypoplasia type 2B2 tests
  • Pontocerebellar hypoplasia type 2C2 tests
  • Pontocerebellar hypoplasia type 43 tests
  • Pontocerebellar hypoplasia type 62 tests
  • Pontocerebellar hypoplasia type 82 tests
  • Pontocerebellar hypoplasia, type 1b2 tests
  • Porokeratosis, disseminated superficial actinic 12 tests
  • Postaxial polydactyly type A14 tests
  • Posterior column ataxia with retinitis pigmentosa2 tests
  • Posterior polar cataract type 22 tests
  • Potassium aggravated myotonia2 tests
  • Prader-Willi syndrome2 tests
  • Prader-Willi-like syndrome2 tests
  • Preaxial polydactyly 22 tests
  • Preaxial polydactyly 44 tests
  • Premature ovarian failure 14 tests
  • Premature ovarian failure 51 test
  • Premature ovarian failure 61 test
  • Premature ovarian failure 71 test
  • Presenile dementia, Kraepelin type1 test
  • Preterm premature rupture of membranes1 test
  • Primary autosomal recessive microcephaly 12 tests
  • Primary autosomal recessive microcephaly 23 tests
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 41 test
  • Primary autosomal recessive microcephaly 52 tests
  • Primary autosomal recessive microcephaly 62 tests
  • Primary autosomal recessive microcephaly 72 tests
  • Primary autosomal recessive microcephaly 81 test
  • Primary ciliary dyskinesia1 test
  • Primary erythromelalgia2 tests
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary open angle glaucoma juvenile onset 11 test
  • Primary pulmonary hypertension4 tests
  • Primary pulmonary hypertension 22 tests
  • Primary pulmonary hypertension 32 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive familial heart block type 1A6 tests
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive intrahepatic cholestasis1 test
  • Progressive myoclonus epilepsy with ataxia2 tests
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia3 tests
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy5 tests
  • Prolonged electroretinal response suppression3 tests
  • Propionic acidemia4 tests
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis2 tests
  • Proteus syndrome2 tests
  • Proud Levine Carpenter syndrome5 tests
  • Pseudo-Hurler polydystrophy5 tests
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome3 tests
  • Pseudohypoaldosteronism type 1 autosomal recessive3 tests
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoparathyroidism type 1A3 tests
  • Pseudohypoparathyroidism type 1B3 tests
  • Pseudohypoparathyroidism type 1C3 tests
  • Pseudoprimary hyperaldosteronism3 tests
  • Pseudopseudohypoparathyroidism4 tests
  • Psoriasiform dermatitis1 test
  • PTEN hamartoma tumor syndrome7 tests
  • PTEN hamartoma tumor syndrome with granular cell tumor3 tests
  • PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 14 tests
  • Pulmonary Surfactant Metabolism Dysfunction2 tests
  • Pulmonary veno-occlusive disease3 tests
  • Purine-nucleoside phosphorylase deficiency3 tests
  • Pyknodysostosis4 tests
  • Pyogenic arthritis, pyoderma gangrenosum and acne1 test
  • Pyridoxal 5'-phosphate-dependent epilepsy2 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate carboxylase deficiency3 tests
  • Pyruvate dehydrogenase complex deficiency3 tests
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency2 tests
  • Radial aplasia-thrombocytopenia syndrome3 tests
  • Raine syndrome2 tests
  • Rapadilino syndrome2 tests
  • Rapp-Hodgkin ectodermal dysplasia syndrome2 tests
  • RAS-associated autoimmune leukoproliferative disorder2 tests
  • Renal adysplasia4 tests
  • Renal carnitine transport defect5 tests
  • Renal cell carcinoma, nonpapillary7 tests
  • Renal cell carcinoma, papillary, 14 tests
  • Renal dysplasia and retinal aplasia1 test
  • Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia2 tests
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal-hepatic-pancreatic dysplasia6 tests
  • Renal-hepatic-pancreatic dysplasia 21 test
  • Renpenning syndrome 16 tests
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 3B3 tests
  • Retinal cone dystrophy 44 tests
  • Retinal dystrophy1 test
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome6 tests
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 12 tests
  • Retinitis pigmentosa 104 tests
  • Retinitis pigmentosa 112 tests
  • Retinitis pigmentosa 124 tests
  • Retinitis pigmentosa 132 tests
  • Retinitis pigmentosa 144 tests
  • Retinitis pigmentosa 157 tests
  • Retinitis pigmentosa 172 tests
  • Retinitis pigmentosa 182 tests
  • Retinitis pigmentosa 195 tests
  • Retinitis pigmentosa 24 tests
  • Retinitis pigmentosa 204 tests
  • Retinitis Pigmentosa 235 tests
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 272 tests
  • Retinitis pigmentosa 282 tests
  • Retinitis pigmentosa 303 tests
  • Retinitis pigmentosa 313 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 353 tests
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 372 tests
  • Retinitis pigmentosa 382 tests
  • Retinitis pigmentosa 395 tests
  • Retinitis pigmentosa 44 tests
  • Retinitis pigmentosa 403 tests
  • Retinitis pigmentosa 414 tests
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 432 tests
  • Retinitis pigmentosa 442 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 473 tests
  • Retinitis pigmentosa 484 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 504 tests
  • Retinitis pigmentosa 514 tests
  • Retinitis pigmentosa 543 tests
  • Retinitis pigmentosa 553 tests
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 594 tests
  • Retinitis pigmentosa 602 tests
  • Retinitis pigmentosa 616 tests
  • Retinitis pigmentosa 622 tests
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 75 tests
  • Retinitis pigmentosa 92 tests
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness7 tests
  • Retinitis punctata albescens1 test
  • Retinoblastoma2 tests
  • Retinoblastoma, trilateral2 tests
  • Retinopathy of prematurity1 test
  • Rett syndrome, congenital variant5 tests
  • Rett's disorder7 tests
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhizomelic chondrodysplasia punctata type 14 tests
  • Ring dermoid of cornea2 tests
  • Rippling muscle disease7 tests
  • Roberts-SC phocomelia syndrome2 tests
  • Robinow syndrome2 tests
  • Robinow syndrome, autosomal recessive4 tests
  • Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked5 tests
  • Rothmund-Thomson syndrome4 tests
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome4 tests
  • Rubinstein-Taybi syndrome 22 tests
  • Russell-Silver syndrome3 tests
  • Saethre-Chotzen syndrome3 tests
  • Salla disease4 tests
  • Sandhoff disease6 tests
  • Sanfilippo syndrome6 tests
  • Sarcotubular myopathy8 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation3 tests
  • Scapuloperoneal myopathy, MYH7-related4 tests
  • Scapuloperoneal myopathy, X-linked dominant1 test
  • Scapuloperoneal spinal muscular atrophy2 tests
  • Scapuloperoneal syndrome, neurogenic, Kaeser type3 tests
  • Schimke immunoosseous dysplasia3 tests
  • Schindler disease, type 14 tests
  • Schizencephaly4 tests
  • Schizophrenia2 tests
  • Schneckenbecken dysplasia3 tests
  • Schwannomatosis1 test
  • Schwartz Jampel syndrome type 12 tests
  • Sclerosteosis2 tests
  • Sclerosteosis 23 tests
  • Scoliosis, idiopathic 32 tests
  • Sebastian syndrome1 test
  • Seckel syndrome1 test
  • Seckel syndrome 21 test
  • Seckel syndrome 42 tests
  • Seckel syndrome 51 test
  • Seckel syndrome 61 test
  • Seckel syndrome 71 test
  • Segawa syndrome, autosomal recessive2 tests
  • Seizures, benign familial infantile, 23 tests
  • Senior-Loken syndrome 19 tests
  • Senior-Loken syndrome 44 tests
  • Senior-Loken syndrome 54 tests
  • Senior-Loken syndrome 611 tests
  • Senior-Loken syndrome 74 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis5 tests
  • Sepiapterin reductase deficiency1 test
  • Septo-optic dysplasia sequence1 test
  • SeSAME syndrome3 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type7 tests
  • Severe combined immunodeficiency disease1 test
  • Severe combined immunodeficiency due to ADA deficiency2 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation2 tests
  • Severe combined immunodeficiency with sensitivity to ionizing radiation2 tests
  • Severe combined immunodeficiency, atypical2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
  • Severe congenital neutropenia autosomal dominant1 test
  • Severe congenital neutropenia X-linked1 test
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive1 test
  • Severe myoclonic epilepsy in infancy5 tests
  • Severe X-linked myotubular myopathy3 tests
  • Shaheen syndrome1 test
  • Short QT syndrome 14 tests
  • Short QT syndrome 25 tests
  • Short QT syndrome 34 tests
  • Short rib polydactyly syndrome 53 tests
  • Short rib-polydactyly syndrome, Majewski type3 tests
  • Short stature, idiopathic, autosomal2 tests
  • Short stature, idiopathic, X-linked4 tests
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly3 tests
  • Shprintzen syndrome1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Sialic acid storage disease, severe infantile type2 tests
  • Sialidosis type I2 tests
  • Sialidosis, type II2 tests
  • Sialuria6 tests
  • Sick sinus syndrome 1, autosomal recessive6 tests
  • Sick sinus syndrome 2, autosomal dominant4 tests
  • Sick sinus syndrome 3, susceptibility to1 test
  • Siderius X-linked mental retardation syndrome3 tests
  • Simpson-Golabi-Behmel syndrome6 tests
  • Simpson-Golabi-Behmel syndrome, type 25 tests
  • Single upper central incisor4 tests
  • Sitosterolemia1 test
  • Situs inversus viscerum2 tests
  • Sjögren-Larsson syndrome2 tests
  • Skin fragility woolly hair syndrome3 tests
  • Skin/hair/eye pigmentation, variation in, 12 tests
  • Skin/hair/eye pigmentation, variation in, 112 tests
  • Skin/hair/eye pigmentation, variation in, 32 tests
  • Skin/hair/eye pigmentation, variation in, 52 tests
  • Small fiber neuropathy1 test
  • Smith McCort dysplasia2 tests
  • Smith-Lemli-Opitz syndrome9 tests
  • Smith-Lemli-Opitz syndrome type 21 test
  • Smith-Magenis syndrome4 tests
  • Snowflake vitreoretinal degeneration4 tests
  • Snyder Robinson syndrome2 tests
  • Sodium serum level quantitative trait locus 12 tests
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy3 tests
  • Sotos syndrome 13 tests
  • Sotos syndrome 21 test
  • Sotos' syndrome1 test
  • Spastic ataxia Charlevoix-Saguenay type2 tests
  • Spastic paraplegia 13 tests
  • Spastic paraplegia 101 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 151 test
  • Spastic paraplegia 172 tests
  • Spastic paraplegia 25 tests
  • Spastic paraplegia 31 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 351 test
  • Spastic paraplegia 391 test
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spastic paraplegia 43, autosomal recessive1 test
  • Spastic paraplegia 53, autosomal recessive1 test
  • Spastic paraplegia 5A1 test
  • Spastic paraplegia 61 test
  • Spastic paraplegia 71 test
  • Spastic paraplegia 81 test
  • Speech-language disorder 13 tests
  • Spermatogenic failure 81 test
  • Spheroid body myopathy3 tests
  • Sphingolipid activator protein 1 deficiency1 test
  • Sphingomyelin/cholesterol lipidosis2 tests
  • Spinal muscular atrophy6 tests
  • Spinal muscular atrophy with respiratory distress 11 test
  • Spinocerebellar ataxia 101 test
  • Spinocerebellar ataxia 111 test
  • Spinocerebellar ataxia 131 test
  • Spinocerebellar ataxia 141 test
  • Spinocerebellar ataxia 151 test
  • Spinocerebellar ataxia 271 test
  • Spinocerebellar ataxia 291 test
  • Spinocerebellar ataxia 51 test
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia autosomal recessive 11 test
  • Spinocerebellar ataxia autosomal recessive with axonal neuropathy1 test
  • Spinocerebellar ataxia, autosomal recessive 141 test
  • Spinocerebellar ataxia, autosomal recessive 76 tests
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Split-hand/foot malformation 42 tests
  • Spondylo-megaepiphyseal-metaphyseal dysplasia2 tests
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like3 tests
  • Spondylocostal dysostosis 31 test
  • Spondyloenchondrodysplasia with immune dysregulation2 tests
  • Spondyloepimetaphyseal dysplasia Matrilin-3 related3 tests
  • Spondyloepimetaphyseal dysplasia Strudwick type7 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity2 tests
  • Spondyloepimetaphyseal dysplasia with multiple dislocations2 tests
  • Spondyloepimetaphyseal dysplasia, Missouri type2 tests
  • Spondyloepimetaphyseal dysplasia, pakistani type2 tests
  • Spondyloepiphyseal dysplasia congenita7 tests
  • Spondyloepiphyseal dysplasia Maroteaux type2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations3 tests
  • Spondylometaepiphyseal dysplasia short limb-hand type2 tests
  • Spondylometaphyseal dysplasia, Kozlowski type2 tests
  • Spondyloperipheral dysplasia7 tests
  • Spongy degeneration of central nervous system3 tests
  • Spontaneous abortion3 tests
  • Squamous cell carcinoma of the head and neck4 tests
  • Stapes ankylosis with broad thumb and toes2 tests
  • Stargardt disease 15 tests
  • Stargardt Disease 32 tests
  • Stargardt disease 44 tests
  • Stargardt's disease1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome1 test
  • Stickler syndrome type 17 tests
  • Stickler syndrome, type 26 tests
  • Stickler syndrome, type 35 tests
  • Stickler syndrome, type 46 tests
  • Stickler syndrome, type 55 tests
  • STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR7 tests
  • Stiff skin syndrome6 tests
  • Stocco dos Santos syndrome3 tests
  • Striatal necrosis, bilateral, and progressive polyneuropathy2 tests
  • Sturge-Weber syndrome1 test
  • Stuve-Wiedemann syndrome2 tests
  • Subacute neuronopathic Gaucher's disease2 tests
  • Subcortical band heterotopia2 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Supravalvar aortic stenosis4 tests
  • Surfactant metabolism dysfunction, pulmonary, 12 tests
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 32 tests
  • Surfactant metabolism dysfunction, pulmonary, 42 tests
  • Symphalangism, proximal, 1b3 tests
  • Symphalangism-brachydactyly syndrome2 tests
  • Syndactyly Cenani Lenz type3 tests
  • Syndactyly type 52 tests
  • SYNDACTYLY, TYPE IV2 tests
  • Syndromic mental retardation, Nascimento type, X-linked4 tests
  • Syndromic X-linked mental retardation, Cabezas type4 tests
  • Synpolydactyly 12 tests
  • Synpolydactyly 22 tests
  • T-cell immunodeficiency, congenital alopecia and nail dystrophy2 tests
  • Talipes equinovarus2 tests
  • TARP syndrome1 test
  • Tarsal carpal coalition syndrome2 tests
  • Tay-Sachs disease10 tests
  • Tay-Sachs disease, variant AB3 tests
  • Telangiectasia, hereditary hemorrhagic, type 52 tests
  • Temtamy preaxial brachydactyly syndrome3 tests
  • Terminal osseous dysplasia8 tests
  • Tetraamelia, autosomal recessive2 tests
  • Tetralogy of Fallot5 tests
  • Thanatophoric dysplasia type 14 tests
  • Thanatophoric dysplasia, type 24 tests
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)1 test
  • Three M syndrome 13 tests
  • Three M syndrome 22 tests
  • Thrombocytopenia, X-linked1 test
  • Thromboxane synthetase deficiency2 tests
  • Thyroid cancer, follicular6 tests
  • Thyroid carcinoma1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal recessive1 test
  • Thyroid hormone resistance, selective pituitary1 test
  • Timothy syndrome7 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Total Hypotrichosis, Mari type1 test
  • Townes syndrome3 tests
  • Transient neonatal diabetes mellitus 11 test
  • Transient neonatal diabetes mellitus 21 test
  • Transient neonatal diabetes mellitus 32 tests
  • Transposition of the great arteries, dextro-looped 31 test
  • Tricho-dento-osseous syndrome2 tests
  • Trichohepatoenteric syndrome2 tests
  • Trichorhinophalangeal dysplasia type I2 tests
  • Trichorhinophalangeal syndrome type 32 tests
  • Triglyceride storage disease with ichthyosis1 test
  • Trigonocephaly 22 tests
  • Troyer syndrome1 test
  • Tuberous sclerosis 16 tests
  • Tuberous sclerosis 26 tests
  • Tumor predisposition syndrome2 tests
  • Tumoral calcinosis, familial, hyperphosphatemic4 tests
  • Turcot syndrome18 tests
  • Turner syndrome2 tests
  • Twinning, monozygotic1 test
  • Tyrosinase-negative oculocutaneous albinism2 tests
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosine kinase 2 deficiency1 test
  • Tyrosinemia type I4 tests
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy13 tests
  • Ulna and fibula absence of with severe limb deficiency2 tests
  • Ulnar-mammary syndrome2 tests
  • Uniparental disomy of 61 test
  • Uniparental disomy of 71 test
  • Uniparental disomy of chromosome 14, maternal2 tests
  • Uniparental disomy, paternal, chromosome 141 test
  • Unverricht-Lundborg syndrome2 tests
  • Usher syndrome type 21 test
  • Usher syndrome, type 14 tests
  • Usher syndrome, type 1C4 tests
  • Usher syndrome, type 1D5 tests
  • Usher syndrome, type 1F5 tests
  • Usher syndrome, type 1G4 tests
  • Usher syndrome, type 1J2 tests
  • Usher syndrome, type 2A5 tests
  • Usher syndrome, type 2C6 tests
  • Usher syndrome, type 36 tests
  • Usher syndrome, type 3B2 tests
  • UV-sensitive syndrome1 test
  • UV-sensitive syndrome 21 test
  • Vacterl association with hydrocephalus4 tests
  • VACTERL association with hydrocephaly, X-linked1 test
  • Van Buchem disease type 25 tests
  • VATER association2 tests
  • Ventricular septal defect 35 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 24 tests
  • Vertical talus, congenital1 test
  • Very long chain acyl-CoA dehydrogenase deficiency4 tests
  • Vitelliform dystrophy4 tests
  • Vitreoretinochoroidopathy dominant4 tests
  • Von Hippel-Lindau syndrome8 tests
  • von Willebrand disease type 11 test
  • Waardenburg syndrome type 4B2 tests
  • Wagner syndrome3 tests
  • Walker-Warburg congenital muscular dystrophy11 tests
  • Warburg micro syndrome 12 tests
  • Warburg micro syndrome 22 tests
  • Warburg micro syndrome 31 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 26 tests
  • Weill-Marchesani syndrome 31 test
  • Weissenbacher-Zweymuller syndrome5 tests
  • Werner syndrome3 tests
  • WFS1-Related Disorders2 tests
  • Williams syndrome3 tests
  • Wilms tumor 13 tests
  • Wilson's disease3 tests
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia3 tests
  • Wolff-Parkinson-White pattern4 tests
  • Wolfram syndrome 22 tests
  • Wolfram-like syndrome, autosomal dominant2 tests
  • Worth disease5 tests
  • Wrinkly skin syndrome4 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked agammaglobulinemia with growth hormone deficiency2 tests
  • X-linked hereditary motor and sensory neuropathy1 test
  • X-linked hydrocephalus syndrome5 tests
  • X-Linked Mental Retardation 413 tests
  • X-Linked Mental Retardation 882 tests
  • X-Linked Mental Retardation 892 tests
  • X-Linked mental retardation 903 tests
  • X-linked mental retardation with marfanoid habitus syndrome8 tests
  • X-linked periventricular heterotopia9 tests
  • X-linked recessive nephrolithiasis with renal failure2 tests
  • X-linked severe combined immunodeficiency2 tests
  • Zellweger syndrome2 tests
  • ZNF711-Related X-linked Mental Retardation3 tests
  • Zunich neuroectodermal syndrome1 test

List of services

  • Custom Balanced Chromosome Rearrangement Studies
  • Prenatal testing
  • Carrier testing
  • Insurance billing
  • Insurance preverification
  • Marker Chromosome Identification
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: KM, DKMDD, comments
  • Confirmation of research findings: Order Code: KM, DKMDD, comments
  • Maternal cell contamination study (MCC): Order Code: MX, CMCCS, comments

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 11D0683478, Expiration date: 2014-03-15
  • CAP, Number: 7181693, Expiration date: 2014-08-02

Licenses

  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1346, Expiration date: 2014-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 031676, Expiration date: 2013-08-15

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA

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.