Sema4 (Sema4), Sema4

General information

Sema4, Sema4
Sema4
62 Southfield Ave.
Stamford
Connecticut
United States - 06902
https://sema4.com
Organization ID: 500057

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 12

    Gene

    GeneSubmissionsLast Updated
    DNAH51Nov 26, 2018
    DYSF1Nov 26, 2018
    EYS2Nov 26, 2018
    GNE3Dec 10, 2014
    HEXA2Nov 28, 2018
    PEX61Nov 26, 2018
    USH2A1Nov 26, 2018
    VRK11Nov 26, 2018

    Condition

    NameSubmissionsLast Updated
    Autosomal recessive limb-girdle muscular dystrophy type 2B1Nov 26, 2018
    GNE myopathy3Dec 10, 2014
    Peroxisome biogenesis disorder 4a (zellweger)1Nov 26, 2018
    Pontocerebellar hypoplasia type 1A1Nov 26, 2018
    Primary Ciliary Dyskinesia (DNAH5-related)1Nov 26, 2018
    Retinitis pigmentosa 252Nov 26, 2018
    Tay-Sachs disease2Nov 28, 2018
    Usher syndrome, type 2A1Nov 26, 2018

    Testing in GTR

    Disease nameNumber of tests
    11q partial monosomy syndrome1 test
    22q13.3 deletion syndrome5 tests
    3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
    3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
    3-Methylglutaconic aciduria type 28 tests
    3-Methylglutaconic aciduria type 34 tests
    3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
    3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2 tests
    46,XX testicular disorder of sex development1 test
    46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
    46,XY sex reversal 92 tests
    46,XY sex reversal, type 11 test
    46,xx gonadal dysgenesis, complete, sry-positive1 test
    4p partial monosomy syndrome3 tests
    5p partial monosomy syndrome3 tests
    ABCD syndrome4 tests
    ALG1-CDG6 tests
    ALG12-congenital disorder of glycosylation6 tests
    ALG2-CDG3 tests
    ALG3-CDG3 tests
    ALG8-CDG3 tests
    ALG9 congenital disorder of glycosylation3 tests
    ANKRD1-related dilated cardiomyopathy4 tests
    Aarskog syndrome4 tests
    Abetalipoproteinaemia5 tests
    Abnormality of mitochondrial metabolism1 test
    Abortive cerebellar ataxia4 tests
    Acheiropodia1 test
    Achondrogenesis type II3 tests
    Achondrogenesis, type IB1 test
    Achondroplasia5 tests
    Achromatopsia 23 tests
    Achromatopsia 34 tests
    Achromatopsia 43 tests
    Acquired hemoglobin H disease5 tests
    Acrocallosal syndrome3 tests
    Acrocephalosyndactyly type I1 test
    Acrodysostosis 1 with or without hormone resistance5 tests
    Acrokeratosis verruciformis of Hopf3 tests
    Acromesomelic dysplasia, Demirhan type2 tests
    Acromicric dysplasia4 tests
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2 tests
    Acute intermittent porphyria2 tests
    Acute lymphoid leukemia16 tests
    Acute myeloid leukemia12 tests
    Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
    Adams-Oliver syndrome 54 tests
    Adenylosuccinate lyase deficiency4 tests
    Adrenocortical carcinoma, hereditary14 tests
    Adrenoleukodystrophy4 tests
    Adult hypophosphatasia2 tests
    Adult neuronal ceroid lipofuscinosis6 tests
    Adult polyglucosan body disease5 tests
    Advanced maternal age gravida1 test
    Afibrinogenemia2 tests
    Agammaglobulinemia 2, autosomal recessive2 tests
    Agammaglobulinemia 3, autosomal recessive2 tests
    Agammaglobulinemia 5, autosomal dominant1 test
    Agammaglobulinemia 6, autosomal recessive2 tests
    Agammaglobulinemia 7, autosomal recessive3 tests
    Age-related macular degeneration 11 test
    Age-related macular degeneration 132 tests
    Age-related macular degeneration 142 tests
    Age-related macular degeneration 23 tests
    Age-related macular degeneration 42 tests
    Age-related macular degeneration 54 tests
    Age-related macular degeneration 63 tests
    Age-related macular degeneration 73 tests
    Age-related macular degeneration 91 test
    Agenesis of the corpus callosum with peripheral neuropathy1 test
    Aicardi Goutieres syndrome 17 tests
    Aicardi Goutieres syndrome 25 tests
    Aicardi Goutieres syndrome 35 tests
    Aicardi Goutieres syndrome 45 tests
    Aicardi Goutieres syndrome 56 tests
    Aicardi-Goutieres syndrome 62 tests
    Aicardi-Goutieres syndrome 72 tests
    Alagille syndrome 17 tests
    Albinism, ocular, with sensorineural deafness8 tests
    Allan-Herndon-Dudley syndrome2 tests
    Alpha thalassemia-X-linked intellectual disability syndrome5 tests
    Alpha-B crystallinopathy6 tests
    Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity5 tests
    Alport syndrome 1, X-linked recessive2 tests
    Alport syndrome 3, autosomal dominant3 tests
    Alport syndrome, autosomal recessive3 tests
    Alstrom syndrome7 tests
    Alternating hemiplegia of childhood 13 tests
    Alveolar rhabdomyosarcoma4 tests
    Ambiguous genitalia1 test
    Amelocerebrohypohidrotic syndrome4 tests
    Amelogenesis imperfecta, type IA1 test
    Aminoacylase 1 deficiency3 tests
    Aminoglycoside-induced deafness2 tests
    Amish lethal microcephaly4 tests
    Amyloidogenic transthyretin amyloidosis4 tests
    Anauxetic dysplasia 14 tests
    Andersen Tawil syndrome5 tests
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
    Anemia, sideroblastic, 11 test
    Angelman syndrome9 tests
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps3 tests
    Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome2 tests
    Aniridia 17 tests
    Aniridia 22 tests
    Anomaly of sex chromosome2 tests
    Anophthalmia/microphthalmia-esophageal atresia syndrome3 tests
    Anterior segment dysgenesis 14 tests
    Anterior segment dysgenesis 33 tests
    Anterior segment dysgenesis 42 tests
    Anterior segment dysgenesis 62 tests
    Anterior segment dysgenesis 74 tests
    Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
    Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
    Anxiety2 tests
    Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
    Aortic aneurysm, familial thoracic 43 tests
    Aortic aneurysm, familial thoracic 63 tests
    Aortic aneurysm, familial thoracic 73 tests
    Aortic aneurysm, familial thoracic 83 tests
    Aortic aneurysm, familial thoracic 92 tests
    Aortic valve disease 14 tests
    Aortic valve disease 23 tests
    Aplastic anemia13 tests
    Arboleda-Tham syndrome2 tests
    Arginase deficiency1 test
    Arginine:glycine amidinotransferase deficiency4 tests
    Argininosuccinate lyase deficiency4 tests
    Aromatase deficiency1 test
    Aromatase excess syndrome1 test
    Arrhythmogenic right ventricular cardiomyopathy, type 105 tests
    Arrhythmogenic right ventricular cardiomyopathy, type 115 tests
    Arrhythmogenic right ventricular cardiomyopathy, type 125 tests
    Arrhythmogenic right ventricular cardiomyopathy, type 55 tests
    Arrhythmogenic right ventricular dysplasia 86 tests
    Arrhythmogenic right ventricular dysplasia 96 tests
    Arrhythmogenic right ventricular dysplasia, familial 15 tests
    Arrhythmogenic right ventricular dysplasia, familial, 133 tests
    Arrhythmogenic right ventricular dysplasia, familial, 27 tests
    Arterial tortuosity syndrome3 tests
    Arthrogryposis, mental retardation, and seizures2 tests
    Arts syndrome7 tests
    Asparagine synthetase deficiency1 test
    Aspartylglucosaminuria1 test
    Asperger syndrome X-linked 23 tests
    Asphyxiating thoracic dystrophy 43 tests
    Asphyxiating thoracic dystrophy 53 tests
    Ataxia-oculomotor apraxia 45 tests
    Ataxia-telangiectasia syndrome11 tests
    Ataxia-telangiectasia-like disorder 14 tests
    Atelosteogenesis type II1 test
    Atrial fibrillation, familial, 1010 tests
    Atrial fibrillation, familial, 113 tests
    Atrial fibrillation, familial, 125 tests
    Atrial fibrillation, familial, 137 tests
    Atrial fibrillation, familial, 144 tests
    Atrial fibrillation, familial, 36 tests
    Atrial fibrillation, familial, 44 tests
    Atrial fibrillation, familial, 63 tests
    Atrial fibrillation, familial, 74 tests
    Atrial fibrillation, familial, 95 tests
    Atrial septal defect 23 tests
    Atrial septal defect 35 tests
    Atrial septal defect 56 tests
    Atrial septal defect 7 with or without atrioventricular conduction defects4 tests
    Atrial septal defect 93 tests
    Atrial standstill 13 tests
    Atrial standstill 23 tests
    Atrioventricular septal defect 22 tests
    Atrioventricular septal defect 32 tests
    Atrioventricular septal defect 43 tests
    Atrioventricular septal defect 53 tests
    Atrophia bulborum hereditaria6 tests
    Atypical hemolytic-uremic syndrome 12 tests
    Atypical hemolytic-uremic syndrome 22 tests
    Atypical hemolytic-uremic syndrome 32 tests
    Atypical hemolytic-uremic syndrome 41 test
    Atypical hemolytic-uremic syndrome 51 test
    Atypical mycobacteriosis, familial, X-linked 25 tests
    Autism 156 tests
    Autism 173 tests
    Autism 52 tests
    Autism spectrum disorder1 test
    Autism, susceptibility to, 182 tests
    Autism, susceptibility to, X-linked 23 tests
    Autism, susceptibility to, X-linked 37 tests
    Autism, susceptibility to, X-linked 43 tests
    Autism, susceptibility to, X-linked 52 tests
    Autism, susceptibility to, X-linked 62 tests
    Autoimmune disease, multisystem, infantile-onset, 13 tests
    Autoimmune disease, multisystem, infantile-onset, 24 tests
    Autoimmune interstitial lung, joint, and kidney disease2 tests
    Autoimmune lymphoproliferative syndrome2 tests
    Autoimmune lymphoproliferative syndrome type 2B2 tests
    Autoimmune lymphoproliferative syndrome type V3 tests
    Autoimmune lymphoproliferative syndrome, type 2A2 tests
    Autoimmune lymphoproliferative syndrome, type III2 tests
    Autoimmune thyroid disease 31 test
    Autoinflammation with infantile enterocolitis3 tests
    Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated3 tests
    Autoinflammatory syndrome, familial, Behcet-like2 tests
    Autosomal chromosomal disorder1 test
    Autosomal dominant distal renal tubular acidosis1 test
    Autosomal dominant nonsyndromic deafness 174 tests
    Autosomal dominant nonsyndromic deafness 222 tests
    Autosomal dominant nonsyndromic deafness 2A2 tests
    Autosomal dominant nonsyndromic deafness 64 tests
    Autosomal dominant optic atrophy classic form4 tests
    Autosomal dominant osteopetrosis 13 tests
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 14 tests
    Autosomal recessive DOPA responsive dystonia2 tests
    Autosomal recessive agammaglobulinemia 12 tests
    Autosomal recessive congenital ichthyosis 11 test
    Autosomal recessive cutis laxa type 1B2 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
    Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
    Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
    Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
    Autosomal recessive limb-girdle muscular dystrophy type 2G4 tests
    Autosomal recessive osteopetrosis 13 tests
    Autosomal recessive polycystic kidney disease2 tests
    Avascular necrosis of the head of femur3 tests
    Avellino corneal dystrophy2 tests
    Axenfeld-Rieger syndrome type 12 tests
    Axenfeld-Rieger syndrome type 33 tests
    B-cell expansion with NFKB and T-cell anergy2 tests
    B4GALT1-CDG3 tests
    BH4-deficient hyperphenylalaninemia A2 tests
    BLOOD GROUP--DIEGO SYSTEM1 test
    BLOOD GROUP--FROESE1 test
    BLOOD GROUP--SWANN SYSTEM1 test
    BLOOD GROUP--WALDNER TYPE1 test
    BLOOD GROUP--WRIGHT ANTIGEN1 test
    BNAR syndrome3 tests
    Baller-Gerold syndrome2 tests
    Baraitser-Winter Syndrome 23 tests
    Baraitser-Winter syndrome 11 test
    Bardet-Biedl syndrome 14 tests
    Bardet-Biedl syndrome 104 tests
    Bardet-Biedl syndrome 113 tests
    Bardet-Biedl syndrome 124 tests
    Bardet-Biedl syndrome 134 tests
    Bardet-Biedl syndrome 144 tests
    Bardet-Biedl syndrome 163 tests
    Bardet-Biedl syndrome 173 tests
    Bardet-Biedl syndrome 25 tests
    Bardet-Biedl syndrome 213 tests
    Bardet-Biedl syndrome 33 tests
    Bardet-Biedl syndrome 43 tests
    Bardet-Biedl syndrome 53 tests
    Bardet-Biedl syndrome 73 tests
    Bardet-Biedl syndrome 83 tests
    Bardet-Biedl syndrome 93 tests
    Bare lymphocyte syndrome 24 tests
    Bare lymphocyte syndrome type 12 tests
    Bartter disease type 4a1 test
    Bartter syndrome, type 2, antenatal3 tests
    Basal cell carcinoma, susceptibility to, 110 tests
    Basal cell carcinoma, susceptibility to, 714 tests
    Basal laminar drusen2 tests
    Beare-Stevenson cutis gyrata syndrome1 test
    Becker muscular dystrophy10 tests
    Beckwith-Wiedemann syndrome4 tests
    Benign familial hematuria3 tests
    Benign familial neonatal seizures 14 tests
    Benign familial neonatal seizures 23 tests
    Benign recurrent intrahepatic cholestasis type 21 test
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy5 tests
    Bent bone dysplasia syndrome1 test
    Bernard Soulier syndrome1 test
    Bernard-Soulier syndrome, type A2, autosomal dominant1 test
    Bestrophinopathy, autosomal recessive4 tests
    Beta-thalassemia, dominant inclusion body type4 tests
    Bietti crystalline corneoretinal dystrophy3 tests
    Bifunctional peroxisomal enzyme deficiency1 test
    Bilateral right-sidedness sequence2 tests
    Biliary tract neoplasm1 test
    Bilirubin, serum level of, quantitative trait locus 11 test
    Biotin-Responsive Multiple Carboxylase Deficiencies1 test
    Biotin-responsive basal ganglia disease3 tests
    Biotinidase deficiency3 tests
    Blau syndrome3 tests
    Blepharocheilodontic syndrome 16 tests
    Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
    Blood group, Chido/Rodgers system2 tests
    Bloom syndrome5 tests
    Bone marrow failure syndrome 514 tests
    Bone mineral density quantitative trait locus 13 tests
    Bone osteosarcoma15 tests
    Borjeson-Forssman-Lehmann syndrome4 tests
    Bothnia retinal dystrophy4 tests
    Brachydactyly type A22 tests
    Brachydactyly type B11 test
    Brachydactyly type D1 test
    Brachydactyly type E11 test
    Brachydactyly, type a1, d2 tests
    Brachydactyly-syndactyly syndrome1 test
    Bradyopsia2 tests
    Brain small vessel disease 1 with or without ocular anomalies3 tests
    Branched-chain keto acid dehydrogenase kinase deficiency4 tests
    Branchiootic syndrome 15 tests
    Branchiootic syndrome 33 tests
    Branchiootorenal Syndrome 15 tests
    Branchiootorenal syndrome 23 tests
    Breast and/or ovarian cancer1 test
    Breast neoplasm1 test
    Breast-ovarian cancer, familial 110 tests
    Breast-ovarian cancer, familial 211 tests
    Breast-ovarian cancer, familial 35 tests
    Breast-ovarian cancer, familial 45 tests
    Bronchiectasis with or without elevated sweat chloride 18 tests
    Brugada syndrome4 tests
    Brugada syndrome 110 tests
    Brugada syndrome 24 tests
    Brugada syndrome 310 tests
    Brugada syndrome 45 tests
    Brugada syndrome 57 tests
    Brugada syndrome 64 tests
    Brugada syndrome 74 tests
    Brugada syndrome 88 tests
    Brugada syndrome 94 tests
    Brunner syndrome2 tests
    C1q deficiency2 tests
    C4a deficiency2 tests
    CARASIL syndrome3 tests
    CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2 tests
    CEDNIK syndrome3 tests
    CHARGE association8 tests
    CK syndrome2 tests
    COG7 congenital disorder of glycosylation3 tests
    CYP2C19-related poor drug metabolism1 test
    Café-au-lait macules with pulmonary stenosis14 tests
    Camptodactyly-tall stature-scoliosis-hearing loss syndrome5 tests
    Cancer of cervix5 tests
    Candidiasis, familial, 22 tests
    Candidiasis, familial, 61 test
    Candidiasis, familial, 91 test
    Capillary malformation-arteriovenous malformation 13 tests
    Carcinoma of colon14 tests
    Carcinoma of esophagus1 test
    Carcinoma of pancreas23 tests
    Cardiac arrest1 test
    Cardiac arrhythmia3 tests
    Cardiac arrhythmia, ankyrin B-related6 tests
    Cardiac valvular dysplasia, X-linked6 tests
    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
    Cardiofaciocutaneous syndrome 16 tests
    Cardiofaciocutaneous syndrome 26 tests
    Cardiofaciocutaneous syndrome 36 tests
    Cardiofaciocutaneous syndrome 46 tests
    Cardiomyopathy4 tests
    Cardiomyopathy, dilated, 1NN8 tests
    Cardiomyopathy, dilated, 2b3 tests
    Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis6 tests
    Cardiomyopathy, familial hypertrophic 272 tests
    Cardiomyopathy, familial hypertrophic, 264 tests
    Carney complex, type 15 tests
    Carney-Stratakis syndrome5 tests
    Carnitine acylcarnitine translocase deficiency5 tests
    Carnitine deficiency, myopathic1 test
    Carnitine palmitoyltransferase 1A deficiency3 tests
    Carnitine palmitoyltransferase I deficiency , muscle1 test
    Carnitine palmitoyltransferase II deficiency1 test
    Carnitine palmitoyltransferase II deficiency, infantile9 tests
    Carnitine palmitoyltransferase II deficiency, lethal neonatal7 tests
    Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced7 tests
    Carpal tunnel syndrome4 tests
    Carpenter syndrome 12 tests
    Cataract 13 tests
    Cataract 114 tests
    Cataract 13 with adult i phenotype3 tests
    Cataract 16, multiple types6 tests
    Cataract 183 tests
    Cataract 34, multiple types3 tests
    Cataract 402 tests
    Cataract 414 tests
    Cataract 5 multiple types3 tests
    Cataract, autosomal dominant3 tests
    Cataract, autosomal recessive congenital 43 tests
    Cataract, autosomal recessive congenital 55 tests
    Cataract, congenital nuclear, autosomal recessive 23 tests
    Cataract, congenital nuclear, autosomal recessive 33 tests
    Cataract-intellectual disability-hypogonadism syndrome1 test
    Catecholaminergic polymorphic ventricular tachycardia type 17 tests
    Caudal regression sequence3 tests
    Cd8 deficiency, familial2 tests
    Celiac disease 33 tests
    Cellular mosaicism1 test
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 22 tests
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 32 tests
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
    Cerebellar atrophy with seizures and variable developmental delay3 tests
    Cerebellar atrophy, developmental delay, and seizures3 tests
    Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23 tests
    Cerebral arteriovenous malformation6 tests
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 13 tests
    Cerebral cavernous malformation3 tests
    Cerebral cavernous malformations 23 tests
    Cerebral cavernous malformations 33 tests
    Cerebral folate transport deficiency5 tests
    Cerebrooculofacioskeletal syndrome 14 tests
    Cerebrooculofacioskeletal syndrome 21 test
    Cerebrooculofacioskeletal syndrome 31 test
    Cerebroretinal microangiopathy with calcifications and cysts 13 tests
    Ceroid lipofuscinosis neuronal 26 tests
    Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant6 tests
    Charcot-Marie-Tooth Neuropathy X Type 11 test
    Charcot-Marie-Tooth disease type 2B15 tests
    Charcot-Marie-Tooth disease, X-linked recessive, type 57 tests
    Charcot-Marie-Tooth disease, axonal type 2V3 tests
    Charcot-Marie-Tooth disease, axonal, type 2O3 tests
    Charcot-Marie-Tooth disease, axonal, type 2w5 tests
    Charcot-Marie-Tooth disease, recessive intermediate B2 tests
    Charcot-Marie-Tooth disease, type 4D1 test
    Charcot-Marie-Tooth disease, type 4k2 tests
    Charlevoix-Saguenay spastic ataxia1 test
    Chilblain lupus 17 tests
    Chilblain lupus 26 tests
    Child syndrome2 tests
    Childhood hypophosphatasia2 tests
    Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia6 tests
    Cholestanol storage disease4 tests
    Cholesterol monooxygenase (side-chain cleaving) deficiency2 tests
    Chondrodysplasia punctata 2 X-linked dominant2 tests
    Choreoacanthocytosis5 tests
    Choroid plexus papilloma14 tests
    Choroidal dystrophy, central areolar 13 tests
    Choroidal dystrophy, central areolar 23 tests
    Choroideremia4 tests
    Christianson syndrome6 tests
    Chromosomal anomaly1 test
    Chromosome 1p36 deletion syndrome3 tests
    Chromosome 22q deletion1 test
    Chromosome 2q32-q33 deletion syndrome2 tests
    Chronic granulomatous disease, X-linked5 tests
    Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
    Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 23 tests
    Chronic infantile neurological, cutaneous and articular syndrome2 tests
    Chudley-McCullough syndrome2 tests
    Chédiak-Higashi syndrome5 tests
    Ciliary dyskinesia, primary, 141 test
    Ciliary dyskinesia, primary, 151 test
    Ciliary dyskinesia, primary, 34 tests
    Ciliary dyskinesia, primary, 92 tests
    Citrullinemia type I4 tests
    Citrullinemia type II4 tests
    Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
    Classic homocystinuria5 tests
    Cleft palate, cardiac defects, and mental retardation2 tests
    Cobalamin C disease3 tests
    Cobalamin deficiency2 tests
    Cockayne syndrome B4 tests
    Cockayne syndrome type A1 test
    Coffin-Lowry syndrome2 tests
    Coffin-Siris syndrome 12 tests
    Coffin-Siris syndrome 52 tests
    Cognitive impairment1 test
    Cognitive impairment with or without cerebellar ataxia4 tests
    Cohen syndrome7 tests
    Coloboma of optic nerve (disease)7 tests
    Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness8 tests
    Colorectal cancer15 tests
    Colorectal cancer 104 tests
    Colorectal cancer, susceptibility to, 126 tests
    Combined cellular and humoral immune defects with granulomas6 tests
    Combined d-2- and l-2-hydroxyglutaric aciduria2 tests
    Combined immunodeficiency due to ORAI1 deficiency4 tests
    Combined immunodeficiency due to STIM1 deficiency3 tests
    Combined immunodeficiency due to ZAP70 deficiency4 tests
    Combined immunodeficiency, X-linked6 tests
    Combined malonic and methylmalonic aciduria1 test
    Combined oxidative phosphorylation deficiency 11 test
    Combined oxidative phosphorylation deficiency 103 tests
    Combined oxidative phosphorylation deficiency 173 tests
    Combined oxidative phosphorylation deficiency 31 test
    Combined oxidative phosphorylation deficiency 64 tests
    Combined saposin deficiency1 test
    Common variable immunodeficiency 13 tests
    Common variable immunodeficiency 102 tests
    Common variable immunodeficiency 112 tests
    Common variable immunodeficiency 22 tests
    Common variable immunodeficiency 32 tests
    Common variable immunodeficiency 42 tests
    Common variable immunodeficiency 61 test
    Common variable immunodeficiency 72 tests
    Common variable immunodeficiency 8, with autoimmunity3 tests
    Complement component 2 deficiency2 tests
    Complement component 3 deficiency, autosomal recessive1 test
    Complement component 4, partial deficiency of1 test
    Complement component 4b deficiency1 test
    Complement component 5 deficiency2 tests
    Complement component 6 deficiency1 test
    Complement component 7 deficiency1 test
    Complement component 9 deficiency2 tests
    Complement component c1s deficiency2 tests
    Complement factor B deficiency1 test
    Complement factor d deficiency2 tests
    Complete trisomy 13 syndrome3 tests
    Complete trisomy 18 syndrome3 tests
    Complete trisomy 21 syndrome3 tests
    Cone dystrophy 33 tests
    Cone dystrophy 43 tests
    Cone dystrophy with supernormal rod response3 tests
    Cone-rod dystrophy 103 tests
    Cone-rod dystrophy 113 tests
    Cone-rod dystrophy 123 tests
    Cone-rod dystrophy 133 tests
    Cone-rod dystrophy 153 tests
    Cone-rod dystrophy 163 tests
    Cone-rod dystrophy 183 tests
    Cone-rod dystrophy 24 tests
    Cone-rod dystrophy 33 tests
    Cone-rod dystrophy 53 tests
    Cone-rod dystrophy 63 tests
    Cone-rod dystrophy 73 tests
    Cone-rod dystrophy 93 tests
    Cone-rod dystrophy, X-linked 13 tests
    Congenital amegakaryocytic thrombocytopenia3 tests
    Congenital bilateral aplasia of vas deferens from CFTR mutation8 tests
    Congenital bile acid synthesis defect 11 test
    Congenital bile acid synthesis defect 21 test
    Congenital central hypoventilation10 tests
    Congenital chromosomal disease2 tests
    Congenital contractural arachnodactyly3 tests
    Congenital disorder of glycosylation3 tests
    Congenital disorder of glycosylation type 1C4 tests
    Congenital disorder of glycosylation type 1E3 tests
    Congenital disorder of glycosylation type 1M7 tests
    Congenital disorder of glycosylation type 1N3 tests
    Congenital disorder of glycosylation type 1O3 tests
    Congenital disorder of glycosylation type 1P3 tests
    Congenital disorder of glycosylation type 1Q3 tests
    Congenital disorder of glycosylation type 1t5 tests
    Congenital disorder of glycosylation type 1u3 tests
    Congenital disorder of glycosylation type 2B3 tests
    Congenital disorder of glycosylation type 2F3 tests
    Congenital disorder of glycosylation type 2H3 tests
    Congenital disorder of glycosylation type 2J3 tests
    Congenital disorder of glycosylation type 2L3 tests
    Congenital disorder of glycosylation type 2i3 tests
    Congenital disorder of glycosylation, type IIa3 tests
    Congenital disorder of glycosylation, type Ia8 tests
    Congenital erythropoietic porphyria2 tests
    Congenital heart defects, multiple types, 42 tests
    Congenital heart disease3 tests
    Congenital hereditary endothelial dystrophy of the cornea1 test
    Congenital hydrocephalus 13 tests
    Congenital hyperammonemia, type I2 tests
    Congenital hypotrichosis with juvenile macular dystrophy2 tests
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
    Congenital microvillous atrophy1 test
    Congenital muscular dystrophy, LMNA-related5 tests
    Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B58 tests
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A58 tests
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A24 tests
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A64 tests
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 tests
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B24 tests
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B35 tests
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B64 tests
    Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B46 tests
    Congenital muscular hypertrophy-cerebral syndrome5 tests
    Congenital myasthenic syndrome 4C1 test
    Congenital ocular coloboma7 tests
    Congenital primary aphakia3 tests
    Congenital stationary night blindness, autosomal dominant 13 tests
    Congenital stationary night blindness, autosomal dominant 23 tests
    Congenital stationary night blindness, autosomal dominant 32 tests
    Congenital stationary night blindness, type 1A2 tests
    Congenital stationary night blindness, type 1B3 tests
    Congenital stationary night blindness, type 1C3 tests
    Congenital stationary night blindness, type 1D3 tests
    Congenital stationary night blindness, type 1E3 tests
    Congenital stationary night blindness, type 1F3 tests
    Congenital stationary night blindness, type 2A4 tests
    Congenital stationary night blindness, type 2B2 tests
    Conotruncal heart malformations10 tests
    Corneal dystrophy, Fuchs endothelial, 34 tests
    Corneal dystrophy, Fuchs endothelial, 41 test
    Corneal dystrophy, lattice type 3A2 tests
    Corneal dystrophy, posterior polymorphous 42 tests
    Corneal dystrophy-perceptive deafness syndrome1 test
    Corneal epithelial dystrophy2 tests
    Cornelia de Lange syndrome 15 tests
    Cornelia de Lange syndrome 34 tests
    Cornelia de Lange syndrome 43 tests
    Cornelia de Lange syndrome 53 tests
    Corpus callosum agenesis-abnormal genitalia syndrome6 tests
    Corpus callosum, partial agenesis of, X-linked2 tests
    Cortical dysplasia, complex, with other brain malformations 13 tests
    Cortical dysplasia, complex, with other brain malformations 31 test
    Cortical dysplasia, complex, with other brain malformations 44 tests
    Cortical dysplasia, complex, with other brain malformations 53 tests
    Cortical dysplasia, complex, with other brain malformations 63 tests
    Cortical malformations, occipital2 tests
    Corticosterone 18-monooxygenase deficiency2 tests
    Corticosterone methyloxidase type 2 deficiency2 tests
    Costello syndrome10 tests
    Cowden syndrome 117 tests
    Coxa plana3 tests
    Cranioectodermal dysplasia 43 tests
    Craniofacial-deafness-hand syndrome4 tests
    Craniofrontonasal syndrome1 test
    Craniometaphyseal dysplasia, autosomal recessive2 tests
    Craniosynostosis 11 test
    Craniosynostosis 21 test
    Craniosynostosis 32 tests
    Craniosynostosis 73 tests
    Creatine transporter deficiency7 tests
    Crigler-Najjar syndrome type 11 test
    Crigler-Najjar syndrome, type II1 test
    Crouzon syndrome1 test
    Crouzon syndrome with acanthosis nigricans5 tests
    Cryohydrocytosis1 test
    Cryptophthalmos, unilateral or bilateral, isolated3 tests
    Culler-Jones syndrome4 tests
    Curry-Hall syndrome1 test
    Cutaneous malignant melanoma 27 tests
    Cutaneous malignant melanoma 36 tests
    Cutaneous malignant melanoma 88 tests
    Cutaneous malignant melanoma 94 tests
    Cutaneous telangiectasia and cancer syndrome, familial4 tests
    Cutis laxa with osteodystrophy3 tests
    Cutis laxa, X-linked5 tests
    Cutis laxa, autosomal dominant 12 tests
    Cyclical neutropenia2 tests
    Cystic fibrosis8 tests
    Cystinuria1 test
    Czech dysplasia, metatarsal type3 tests
    D-2-hydroxyglutaric aciduria 12 tests
    DE SANCTIS-CACCHIONE SYNDROME4 tests
    DICER1-related pleuropulmonary blastoma cancer predisposition syndrome8 tests
    DOORS syndrome5 tests
    DPAGT1-CDG3 tests
    Danon disease8 tests
    Deafness dystonia syndrome5 tests
    Deafness, X-linked 17 tests
    Deafness, X-linked 22 tests
    Deafness, autosomal dominant 12 tests
    Deafness, autosomal dominant 105 tests
    Deafness, autosomal dominant 116 tests
    Deafness, autosomal dominant 122 tests
    Deafness, autosomal dominant 134 tests
    Deafness, autosomal dominant 152 tests
    Deafness, autosomal dominant 203 tests
    Deafness, autosomal dominant 233 tests
    Deafness, autosomal dominant 282 tests
    Deafness, autosomal dominant 34, with or without inflammation2 tests
    Deafness, autosomal dominant 362 tests
    Deafness, autosomal dominant 3a5 tests
    Deafness, autosomal dominant 3b3 tests
    Deafness, autosomal dominant 42 tests
    Deafness, autosomal dominant 412 tests
    Deafness, autosomal dominant 442 tests
    Deafness, autosomal dominant 4b2 tests
    Deafness, autosomal dominant 52 tests
    Deafness, autosomal dominant 642 tests
    Deafness, autosomal dominant 655 tests
    Deafness, autosomal dominant 732 tests
    Deafness, autosomal dominant 92 tests
    Deafness, autosomal recessive 1102 tests
    Deafness, autosomal recessive 1132 tests
    Deafness, autosomal recessive 126 tests
    Deafness, autosomal recessive 152 tests
    Deafness, autosomal recessive 162 tests
    Deafness, autosomal recessive 186 tests
    Deafness, autosomal recessive 18b2 tests
    Deafness, autosomal recessive 1A5 tests
    Deafness, autosomal recessive 1b3 tests
    Deafness, autosomal recessive 26 tests
    Deafness, autosomal recessive 212 tests
    Deafness, autosomal recessive 222 tests
    Deafness, autosomal recessive 237 tests
    Deafness, autosomal recessive 242 tests
    Deafness, autosomal recessive 252 tests
    Deafness, autosomal recessive 282 tests
    Deafness, autosomal recessive 292 tests
    Deafness, autosomal recessive 32 tests
    Deafness, autosomal recessive 302 tests
    Deafness, autosomal recessive 315 tests
    Deafness, autosomal recessive 352 tests
    Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
    Deafness, autosomal recessive 372 tests
    Deafness, autosomal recessive 392 tests
    Deafness, autosomal recessive 4, with enlarged vestibular aqueduct6 tests
    Deafness, autosomal recessive 422 tests
    Deafness, autosomal recessive 485 tests
    Deafness, autosomal recessive 492 tests
    Deafness, autosomal recessive 534 tests
    Deafness, autosomal recessive 592 tests
    Deafness, autosomal recessive 62 tests
    Deafness, autosomal recessive 632 tests
    Deafness, autosomal recessive 672 tests
    Deafness, autosomal recessive 72 tests
    Deafness, autosomal recessive 742 tests
    Deafness, autosomal recessive 774 tests
    Deafness, autosomal recessive 792 tests
    Deafness, autosomal recessive 82 tests
    Deafness, autosomal recessive 842 tests
    Deafness, autosomal recessive 84b2 tests
    Deafness, autosomal recessive 865 tests
    Deafness, autosomal recessive 892 tests
    Deafness, autosomal recessive 92 tests
    Deafness, autosomal recessive 912 tests
    Deafness, autosomal recessive 973 tests
    Deafness, autosomal recessive 982 tests
    Deafness, congenital heart defects, and posterior embryotoxon7 tests
    Deafness, nonsyndromic sensorineural, mitochondrial3 tests
    Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
    Deficiency of acetyl-CoA acetyltransferase2 tests
    Deficiency of alpha-mannosidase1 test
    Deficiency of butyryl-CoA dehydrogenase1 test
    Deficiency of galactokinase2 tests
    Deficiency of glycerol kinase2 tests
    Deficiency of guanidinoacetate methyltransferase5 tests
    Deficiency of hyaluronoglucosaminidase1 test
    Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
    Deficiency of iodide peroxidase1 test
    Deficiency of isobutyryl-CoA dehydrogenase1 test
    Deficiency of malonyl-CoA decarboxylase4 tests
    Deficiency of steroid 11-beta-monooxygenase1 test
    Deficiency of steroid 17-alpha-monooxygenase1 test
    Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency5 tests
    Dent disease type 22 tests
    Desanto-shinawi syndrome2 tests
    Desmoid disease, hereditary9 tests
    Developmental and epileptic encephalopathy 923 tests
    Developmental and epileptic encephalopathy 944 tests
    Developmental and epileptic encephalopathy, 743 tests
    Developmental delay and seizures with or without movement abnormalities5 tests
    Developmental delay with variable intellectual impairment and behavioral abnormalities2 tests
    Developmental malformations-deafness-dystonia syndrome1 test
    DiGeorge Syndrome9 tests
    Diabetes mellitus, insulin-dependent, 103 tests
    Diabetes mellitus, insulin-dependent, 123 tests
    Diabetes mellitus, insulin-dependent, 21 test
    Diaphragmatic hernia 32 tests
    Diarrhea 5, with tufting enteropathy, congenital13 tests
    Diarrhea 61 test
    Diarrhea 8, secretory sodium, congenital1 test
    Diastrophic dysplasia1 test
    Dibasic amino aciduria i1 test
    Dihydropteridine reductase deficiency1 test
    Dihydropyrimidine dehydrogenase deficiency3 tests
    Dilated cardiomyopathy 1A5 tests
    Dilated cardiomyopathy 1AA5 tests
    Dilated cardiomyopathy 1BB5 tests
    Dilated cardiomyopathy 1C6 tests
    Dilated cardiomyopathy 1CC4 tests
    Dilated cardiomyopathy 1DD3 tests
    Dilated cardiomyopathy 1E10 tests
    Dilated cardiomyopathy 1EE5 tests
    Dilated cardiomyopathy 1FF5 tests
    Dilated cardiomyopathy 1G3 tests
    Dilated cardiomyopathy 1GG7 tests
    Dilated cardiomyopathy 1HH4 tests
    Dilated cardiomyopathy 1I5 tests
    Dilated cardiomyopathy 1II6 tests
    Dilated cardiomyopathy 1J5 tests
    Dilated cardiomyopathy 1JJ3 tests
    Dilated cardiomyopathy 1KK4 tests
    Dilated cardiomyopathy 1L3 tests
    Dilated cardiomyopathy 1M4 tests
    Dilated cardiomyopathy 1O5 tests
    Dilated cardiomyopathy 1P6 tests
    Dilated cardiomyopathy 1R6 tests
    Dilated cardiomyopathy 1S5 tests
    Dilated cardiomyopathy 1W5 tests
    Dilated cardiomyopathy 1X6 tests
    Dilated cardiomyopathy 1Y5 tests
    Dilated cardiomyopathy 1Z4 tests
    Dilated cardiomyopathy 2A5 tests
    Dilated cardiomyopathy 3B10 tests
    Dilated cardiomyopathy with woolly hair and keratoderma6 tests
    Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome5 tests
    Disorder due cytochrome p450 CYP2D6 variant1 test
    Disorder of amino acid metabolism4 tests
    Disorder of fatty acid metabolism3 tests
    Disorder of organic acid metabolism3 tests
    Disorder of the urea cycle metabolism3 tests
    Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
    Disseminated atypical mycobacterial infection2 tests
    Distal myopathy, Tateyama type6 tests
    Distal spinal muscular atrophy, X-linked 35 tests
    Dominant dystrophic epidermolysis bullosa with absence of skin1 test
    Donnai-Barrow syndrome2 tests
    Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
    Double Y syndrome2 tests
    Doyne honeycomb retinal dystrophy2 tests
    Drash syndrome5 tests
    Duane-radial ray syndrome1 test
    Duchenne muscular dystrophy10 tests
    Dyskeratosis congenita autosomal recessive 13 tests
    Dyskeratosis congenita, X-linked6 tests
    Dyskeratosis congenita, autosomal dominant 14 tests
    Dyskeratosis congenita, autosomal dominant 62 tests
    Dyskeratosis congenita, autosomal dominant, 24 tests
    Dyskeratosis congenita, autosomal dominant, 33 tests
    Dyskeratosis congenita, autosomal recessive 23 tests
    Dyskeratosis congenita, autosomal recessive, 32 tests
    Dyskeratosis congenita, autosomal recessive, 56 tests
    Dyskinesia, seizures, and intellectual developmental disorder2 tests
    Dystonia 51 test
    Dystonia 95 tests
    Dystransthyretinemic euthyroidal hyperthyroxinemia4 tests
    EAST syndrome3 tests
    EEM syndrome2 tests
    Early infantile epileptic encephalopathy 105 tests
    Early infantile epileptic encephalopathy 115 tests
    Early infantile epileptic encephalopathy 123 tests
    Early infantile epileptic encephalopathy 134 tests
    Early infantile epileptic encephalopathy 143 tests
    Early infantile epileptic encephalopathy 153 tests
    Early infantile epileptic encephalopathy 165 tests
    Early infantile epileptic encephalopathy 173 tests
    Early infantile epileptic encephalopathy 183 tests
    Early infantile epileptic encephalopathy 26 tests
    Early infantile epileptic encephalopathy 213 tests
    Early infantile epileptic encephalopathy 344 tests
    Early infantile epileptic encephalopathy 44 tests
    Early infantile epileptic encephalopathy 53 tests
    Early infantile epileptic encephalopathy 623 tests
    Early infantile epileptic encephalopathy 74 tests
    Early infantile epileptic encephalopathy 83 tests
    Early infantile epileptic encephalopathy 95 tests
    Early myoclonic encephalopathy3 tests
    Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2 tests
    Ectodermal dysplasia and immunodeficiency 12 tests
    Ectodermal dysplasia and immunodeficiency 22 tests
    Ectodermal dysplasia/short stature syndrome2 tests
    Ectopia lentis, isolated, autosomal dominant4 tests
    Eculizumab, poor response to2 tests
    Ehlers-Danlos syndrome classic type 23 tests
    Ehlers-Danlos syndrome dermatosparaxis type4 tests
    Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
    Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
    Ehlers-Danlos syndrome, arthrochalasia type, 12 tests
    Ehlers-Danlos syndrome, cardiac valvular type2 tests
    Ehlers-Danlos syndrome, classic type3 tests
    Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
    Ehlers-Danlos syndrome, musculocontractural type2 tests
    Ehlers-Danlos syndrome, periodontal type, 22 tests
    Ehlers-Danlos syndrome, type 43 tests
    Ehlers-danlos syndrome, arthrochalasia type, 22 tests
    Elevated serum creatine phosphokinase6 tests
    Ellis-van Creveld syndrome1 test
    Emery-Dreifuss muscular dystrophy 1, X-linked5 tests
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive5 tests
    Emery-Dreifuss muscular dystrophy 7, autosomal dominant5 tests
    Encephalocraniocutaneous lipomatosis1 test
    Encephalopathy, acute, infection-induced, 4, susceptibility to7 tests
    Encephalopathy, familial, with neuroserpin inclusion bodies3 tests
    Endometrial carcinoma14 tests
    Enhanced S-cone syndrome5 tests
    Epidermal nevus16 tests
    Epidermal nevus syndrome12 tests
    Epidermodysplasia verruciformis, susceptibility to, 42 tests
    Epidermolysis bullosa pruriginosa1 test
    Epilepsy with grand mal seizures on awakening3 tests
    Epilepsy, X-linked, with variable learning disabilities and behavior disorders4 tests
    Epilepsy, childhood absence 23 tests
    Epilepsy, childhood absence 53 tests
    Epilepsy, childhood absence 63 tests
    Epilepsy, familial focal, with variable foci 13 tests
    Epilepsy, familial focal, with variable foci 23 tests
    Epilepsy, familial focal, with variable foci 33 tests
    Epilepsy, familial focal, with variable foci 43 tests
    Epilepsy, familial temporal lobe, 53 tests
    Epilepsy, familial temporal lobe, 74 tests
    Epilepsy, focal, with speech disorder and with or without mental retardation3 tests
    Epilepsy, idiopathic generalized 103 tests
    Epilepsy, idiopathic generalized 86 tests
    Epilepsy, idiopathic generalized 93 tests
    Epilepsy, idiopathic generalized, susceptibility to, 125 tests
    Epilepsy, idiopathic generalized, susceptibility to, 144 tests
    Epilepsy, juvenile absence, susceptibility to, 13 tests
    Epilepsy, juvenile myoclonic 53 tests
    Epilepsy, nocturnal frontal lobe, 53 tests
    Epilepsy, nocturnal frontal lobe, type 13 tests
    Epilepsy, nocturnal frontal lobe, type 33 tests
    Epilepsy, nocturnal frontal lobe, type 43 tests
    Epilepsy, progressive myoclonic 33 tests
    Epilepsy, progressive myoclonic 4, with or without renal failure3 tests
    Epilepsy, progressive myoclonic 53 tests
    Epilepsy, progressive myoclonic 63 tests
    Epileptic encephalopathy, early infantile, 16 tests
    Epileptic encephalopathy, early infantile, 193 tests
    Epileptic encephalopathy, early infantile, 233 tests
    Epileptic encephalopathy, early infantile, 243 tests
    Epileptic encephalopathy, early infantile, 253 tests
    Epileptic encephalopathy, early infantile, 263 tests
    Epileptic encephalopathy, early infantile, 274 tests
    Epileptic encephalopathy, early infantile, 283 tests
    Epileptic encephalopathy, early infantile, 303 tests
    Epileptic encephalopathy, early infantile, 313 tests
    Epileptic encephalopathy, early infantile, 324 tests
    Epileptic encephalopathy, early infantile, 334 tests
    Epileptic encephalopathy, early infantile, 353 tests
    Epileptic encephalopathy, early infantile, 363 tests
    Epileptic encephalopathy, early infantile, 413 tests
    Epileptic encephalopathy, early infantile, 423 tests
    Epileptic encephalopathy, early infantile, 433 tests
    Epileptic encephalopathy, early infantile, 527 tests
    Epileptic encephalopathy, early infantile, 543 tests
    Epiphyseal dysplasia, multiple, 23 tests
    Epiphyseal dysplasia, multiple, with myopia and conductive deafness3 tests
    Episodic ataxia type 13 tests
    Episodic ataxia type 23 tests
    Episodic ataxia, type 53 tests
    Episodic kinesigenic dyskinesia 14 tests
    Episodic pain syndrome, familial, 24 tests
    Erythrocytosis 6, familial4 tests
    Erythrocytosis, familial, 28 tests
    Erythrocytosis, familial, 75 tests
    Erythrokeratodermia variabilis et progressiva 32 tests
    Essential hypertension1 test
    Ethylmalonic encephalopathy3 tests
    Ewing sarcoma1 test
    Exudative vitreoretinopathy 12 tests
    Exudative vitreoretinopathy 43 tests
    Exudative vitreoretinopathy 52 tests
    Exudative vitreoretinopathy 72 tests
    FG syndrome 15 tests
    FG syndrome 26 tests
    FG syndrome 45 tests
    FRAXE2 tests
    Fabry disease7 tests
    Facial dysmorphism with multiple malformations1 test
    Facial dysmorphism, immunodeficiency, livedo, and short stature6 tests
    Factor H deficiency2 tests
    Familial Mediterranean fever5 tests
    Familial adenomatous polyposis 19 tests
    Familial adenomatous polyposis 33 tests
    Familial amyloid nephropathy with urticaria AND deafness2 tests
    Familial atrial myxoma5 tests
    Familial atypical mycobacteriosis, type 1, X-linked2 tests
    Familial cancer of breast25 tests
    Familial cold autoinflammatory syndrome 12 tests
    Familial cold autoinflammatory syndrome 22 tests
    Familial cold autoinflammatory syndrome 33 tests
    Familial cold autoinflammatory syndrome 43 tests
    Familial dysautonomia2 tests
    Familial exudative vitreoretinopathy, X-linked6 tests
    Familial hemiplegic migraine type 13 tests
    Familial hemiplegic migraine type 23 tests
    Familial hemiplegic migraine type 35 tests
    Familial hemophagocytic lymphohistiocytosis 23 tests
    Familial hemophagocytic lymphohistiocytosis 32 tests
    Familial hemophagocytic lymphohistiocytosis 43 tests
    Familial hyperaldosteronism type 34 tests
    Familial hypercholesterolemia 15 tests
    Familial hypercholesterolemia 22 tests
    Familial hypercholesterolemia 32 tests
    Familial hypercholesterolemia 43 tests
    Familial hypertrophic cardiomyopathy 17 tests
    Familial hypertrophic cardiomyopathy 103 tests
    Familial hypertrophic cardiomyopathy 116 tests
    Familial hypertrophic cardiomyopathy 124 tests
    Familial hypertrophic cardiomyopathy 134 tests
    Familial hypertrophic cardiomyopathy 145 tests
    Familial hypertrophic cardiomyopathy 155 tests
    Familial hypertrophic cardiomyopathy 163 tests
    Familial hypertrophic cardiomyopathy 173 tests
    Familial hypertrophic cardiomyopathy 186 tests
    Familial hypertrophic cardiomyopathy 25 tests
    Familial hypertrophic cardiomyopathy 204 tests
    Familial hypertrophic cardiomyopathy 35 tests
    Familial hypertrophic cardiomyopathy 45 tests
    Familial hypertrophic cardiomyopathy 64 tests
    Familial hypertrophic cardiomyopathy 75 tests
    Familial hypertrophic cardiomyopathy 83 tests
    Familial hypertrophic cardiomyopathy 93 tests
    Familial hypokalemia-hypomagnesemia1 test
    Familial isolated deficiency of vitamin E2 tests
    Familial mediterranean fever, autosomal dominant5 tests
    Familial medullary thyroid carcinoma6 tests
    Familial partial lipodystrophy 25 tests
    Familial platelet disorder with associated myeloid malignancy3 tests
    Familial porphyria cutanea tarda1 test
    Familial restrictive cardiomyopathy 15 tests
    Familial restrictive cardiomyopathy 35 tests
    Familial temporal lobe epilepsy 13 tests
    Familial visceral amyloidosis, Ostertag type2 tests
    Fanconi anemia, complementation group A2 tests
    Fanconi anemia, complementation group B1 test
    Fanconi anemia, complementation group C4 tests
    Fanconi anemia, complementation group D111 tests
    Fanconi anemia, complementation group D21 test
    Fanconi anemia, complementation group E1 test
    Fanconi anemia, complementation group F1 test
    Fanconi anemia, complementation group G2 tests
    Fanconi anemia, complementation group I1 test
    Fanconi anemia, complementation group J4 tests
    Fanconi anemia, complementation group L1 test
    Fanconi anemia, complementation group N8 tests
    Fanconi anemia, complementation group O5 tests
    Fanconi anemia, complementation group P1 test
    Fanconi anemia, complementation group Q1 test
    Fanconi anemia, complementation group S10 tests
    Fanconi anemia, complementation group U3 tests
    Fatal infantile hypertonic myofibrillar myopathy6 tests
    Febrile seizures, familial, 113 tests
    Febrile seizures, familial, 48 tests
    Fetal hemoglobin quantitative trait locus 14 tests
    Fibrochondrogenesis 13 tests
    Fibrochondrogenesis 24 tests
    Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement3 tests
    Finnish congenital nephrotic syndrome1 test
    Fleck retina, familial benign3 tests
    Focal cortical dysplasia type II13 tests
    Focal dermal hypoplasia2 tests
    Foveal hypoplasia and presenile cataract syndrome7 tests
    Fragile X syndrome8 tests
    Fragile X tremor/ataxia syndrome8 tests
    Fraser syndrome 13 tests
    Fraser syndrome 23 tests
    Fraser syndrome 35 tests
    Frasier syndrome5 tests
    Frontometaphyseal dysplasia 16 tests
    Fructose-biphosphatase deficiency1 test
    Fuhrmann syndrome1 test
    Fukuyama congenital muscular dystrophy6 tests
    Fumarase deficiency6 tests
    GLUT1 deficiency syndrome 15 tests
    GLUT1 deficiency syndrome 25 tests
    GM1 gangliosidosis type 24 tests
    GM1 gangliosidosis type 34 tests
    GM3 synthase deficiency3 tests
    GNE myopathy1 test
    GRACILE syndrome1 test
    GTP cyclohydrolase I deficiency1 test
    Galactosylceramide beta-galactosidase deficiency3 tests
    Gamma-aminobutyric acid transaminase deficiency3 tests
    Gastric cancer10 tests
    Gastrointestinal stromal tumor6 tests
    Gaucher disease3 tests
    Gaucher disease type 3C5 tests
    Gaucher disease type I5 tests
    Gaucher disease type II5 tests
    Gaucher disease type III5 tests
    Gaucher disease, atypical, due to saposin C deficiency1 test
    Gaucher disease, perinatal lethal5 tests
    Geleophysic dysplasia 24 tests
    Generalized dominant dystrophic epidermolysis bullosa1 test
    Generalized epilepsy with febrile seizures plus, type 17 tests
    Generalized epilepsy with febrile seizures plus, type 103 tests
    Generalized epilepsy with febrile seizures plus, type 25 tests
    Generalized epilepsy with febrile seizures plus, type 73 tests
    Generalized epilepsy with febrile seizures plus, type 93 tests
    Generalized juvenile polyposis/juvenile polyposis coli11 tests
    Genitopatellar syndrome2 tests
    Germ cell tumor1 test
    Germ cell tumor of testis9 tests
    Gilbert syndrome1 test
    Gingival fibromatosis 16 tests
    Glaucoma 1, open angle, A2 tests
    Glaucoma 3, primary congenital, A2 tests
    Glaucoma, normal tension, susceptibility to4 tests
    Glioma1 test
    Glioma susceptibility 114 tests
    Glioma susceptibility 217 tests
    Glioma susceptibility 311 tests
    Glioma susceptibility 94 tests
    Global developmental delay1 test
    Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome8 tests
    Glucocorticoid deficiency 53 tests
    Glucose-6-phosphate transport defect4 tests
    Glutaric aciduria, type 13 tests
    Glutaryl-CoA oxidase deficiency1 test
    Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
    Gluthathione synthetase deficiency1 test
    Glycogen storage disease IXb1 test
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
    Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
    Glycogen storage disease of heart, lethal congenital4 tests
    Glycogen storage disease type III6 tests
    Glycogen storage disease, type II8 tests
    Glycogen storage disease, type IV5 tests
    Glycogen storage disease, type V1 test
    Glycogen storage disease, type VI1 test
    Glycogen storage disease, type VII2 tests
    Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors8 tests
    Goldberg-Shprintzen megacolon syndrome3 tests
    Gorlin syndrome7 tests
    Graft-versus-host disease, susceptibility to3 tests
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative5 tests
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III3 tests
    Greenberg dysplasia3 tests
    Greig cephalopolysyndactyly syndrome3 tests
    Griscelli syndrome type 22 tests
    Groenouw corneal dystrophy type I2 tests
    Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3 tests
    HSD10 disease3 tests
    Haim-Munk syndrome2 tests
    Hamartoma of hypothalamus3 tests
    Hartsfield syndrome1 test
    Hashimoto thyroiditis3 tests
    Hawkinsinuria1 test
    Hb SS disease4 tests
    Heart-hand syndrome, Slovenian type5 tests
    Heimler syndrome 16 tests
    Heimler syndrome 26 tests
    Heinz body anemia5 tests
    Helicobacter pylori infection, susceptibility to2 tests
    Helsmoortel-Van der Aa Syndrome2 tests
    Hematologic neoplasm1 test
    Hemochromatosis type 2A1 test
    Hemochromatosis type 31 test
    Hemoglobin H disease5 tests
    Hemophagocytic lymphohistiocytosis, familial, 53 tests
    Hemorrhage, intracerebral, susceptibility to3 tests
    Hepatic methionine adenosyltransferase deficiency1 test
    Hepatic veno-occlusive disease-immunodeficiency syndrome2 tests
    Hepatitis b virus, susceptibility to3 tests
    Hepatocellular carcinoma19 tests
    Hereditary acrodermatitis enteropathica2 tests
    Hereditary angioedema type 11 test
    Hereditary coproporphyria2 tests
    Hereditary diffuse gastric cancer13 tests
    Hereditary disease14 tests
    Hereditary factor IX deficiency disease2 tests
    Hereditary factor XI deficiency disease2 tests
    Hereditary fructosuria2 tests
    Hereditary hemorrhagic telangiectasia type 13 tests
    Hereditary insensitivity to pain with anhidrosis1 test
    Hereditary leiomyomatosis and renal cell cancer6 tests
    Hereditary mixed polyposis syndrome 27 tests
    Hereditary nonpolyposis colorectal cancer type 413 tests
    Hereditary nonpolyposis colorectal cancer type 512 tests
    Hereditary nonpolyposis colorectal cancer type 63 tests
    Hereditary nonpolyposis colorectal cancer type 813 tests
    Hereditary pancreatitis8 tests
    Hereditary sensory and autonomic neuropathy type IIC2 tests
    Hereditary spastic paraplegia 23 tests
    Hermansky-Pudlak syndrome 15 tests
    Hermansky-Pudlak syndrome 25 tests
    Hermansky-Pudlak syndrome 35 tests
    Hermansky-Pudlak syndrome 44 tests
    Hermansky-Pudlak syndrome 53 tests
    Hermansky-Pudlak syndrome 64 tests
    Hermansky-Pudlak syndrome 93 tests
    Herpes simplex encephalitis 22 tests
    Heterotaxy, visceral, 1, X-linked2 tests
    Heterotaxy, visceral, 2, autosomal2 tests
    Heterotaxy, visceral, 4, autosomal2 tests
    Heterotopia, periventricular, autosomal recessive4 tests
    Hidrotic ectodermal dysplasia syndrome3 tests
    Hirschsprung disease 15 tests
    Hirschsprung disease 24 tests
    Hirschsprung disease 44 tests
    Histidine transport defect1 test
    Histiocytic medullary reticulosis6 tests
    Holocarboxylase synthetase deficiency3 tests
    Holoprosencephaly 111 test
    Holoprosencephaly 21 test
    Holoprosencephaly 31 test
    Holoprosencephaly 41 test
    Holoprosencephaly 51 test
    Holoprosencephaly 77 tests
    Holoprosencephaly 94 tests
    Holoprosencephaly sequence1 test
    Holt-Oram syndrome4 tests
    Homocystinuria due to methylene tetrahydrofolate reductase deficiency4 tests
    Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type2 tests
    Human immunodeficiency virus type 1, susceptibility to3 tests
    Hurler syndrome6 tests
    Hutchinson-Gilford syndrome5 tests
    Hydrocephalus, congenital, 3, with brain anomalies2 tests
    Hydrolethalus syndrome 11 test
    Hydrolethalus syndrome 23 tests
    Hyper-IgE recurrent infection syndrome 1, autosomal dominant3 tests
    Hyper-IgM syndrome type 13 tests
    Hyper-IgM syndrome type 23 tests
    Hyper-IgM syndrome type 32 tests
    Hyper-IgM syndrome type 52 tests
    Hyperaldosteronism, familial, type I1 test
    Hyperaldosteronism, familial, type II3 tests
    Hyperaldosteronism, familial, type IV3 tests
    Hyperammonemia, type III2 tests
    Hyperimmunoglobulin D with periodic fever3 tests
    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive4 tests
    Hyperinsulinemic hypoglycemia, familial, 13 tests
    Hyperinsulinemic hypoglycemia, familial, 25 tests
    Hyperinsulinemic hypoglycemia, familial, 41 test
    Hyperinsulinism-hyperammonemia syndrome1 test
    Hyperlipidemia, familial combined, LPL related2 tests
    Hyperlipoproteinemia, type I2 tests
    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2 tests
    Hyperparathyroidism 14 tests
    Hyperparathyroidism 24 tests
    Hyperphenylalaninemia, BH4-deficient, D1 test
    Hyperphenylalaninemia, non-pku2 tests
    Hyperphosphatasia with mental retardation syndrome 13 tests
    Hyperphosphatasia with mental retardation syndrome 23 tests
    Hyperproinsulinemia1 test
    Hyperthyroidism, familial gestational1 test
    Hyperthyroidism, nonautoimmune1 test
    Hypertrichotic osteochondrodysplasia Cantu type5 tests
    Hypertrophic cardiomyopathy3 tests
    Hypertrophic cardiomyopathy 254 tests
    Hypertyrosinemia2 tests
    Hypobetalipoproteinemia, familial, 12 tests
    Hypocalcemia, autosomal dominant 16 tests
    Hypocalciuric hypercalcemia, familial, type 16 tests
    Hypochondroplasia5 tests
    Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
    Hypogonadotropic hypogonadism 2 with or without anosmia1 test
    Hypogonadotropic hypogonadism 5 with or without anosmia6 tests
    Hypogonadotropic hypogonadism 6 with or without anosmia1 test
    Hypohidrotic X-linked ectodermal dysplasia1 test
    Hypomagnesemia 1, intestinal3 tests
    Hypoparathyroidism, deafness, renal disease syndrome2 tests
    Hypoplastic left heart syndrome 12 tests
    Hypoplastic left heart syndrome 24 tests
    Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration6 tests
    Hypoproteinemia, hypercatabolic2 tests
    Hypothyroidism, central, and testicular enlargement1 test
    Hypothyroidism, congenital, nongoitrous, 11 test
    Hypothyroidism, congenital, nongoitrous, 21 test
    Hypothyroidism, congenital, nongoitrous, 54 tests
    Hypothyroidism, congenital, nongoitrous, 61 test
    Hypothyroidism, isolated, TRHR related1 test
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 22 tests
    Hystrix-like ichthyosis with deafness5 tests
    I blood group system3 tests
    IFAP syndrome with or without BRESHECK syndrome2 tests
    IL21R immunodeficiency1 test
    Ichthyosis, spastic quadriplegia, and mental retardation2 tests
    Idiopathic hypereosinophilic syndrome2 tests
    Idiopathic nephrotic syndrome1 test
    Ige responsiveness, atopic1 test
    Immune deficiency disease2 tests
    Immunodeficiency 112 tests
    Immunodeficiency 11b with atopic dermatitis2 tests
    Immunodeficiency 122 tests
    Immunodeficiency 143 tests
    Immunodeficiency 152 tests
    Immunodeficiency 15a2 tests
    Immunodeficiency 173 tests
    Immunodeficiency 184 tests
    Immunodeficiency 194 tests
    Immunodeficiency 222 tests
    Immunodeficiency 232 tests
    Immunodeficiency 242 tests
    Immunodeficiency 26 with or without neurologic abnormalities4 tests
    Immunodeficiency 27b2 tests
    Immunodeficiency 282 tests
    Immunodeficiency 291 test
    Immunodeficiency 302 tests
    Immunodeficiency 31C3 tests
    Immunodeficiency 31a3 tests
    Immunodeficiency 32a2 tests
    Immunodeficiency 32b2 tests
    Immunodeficiency 352 tests
    Immunodeficiency 363 tests
    Immunodeficiency 38 with basal ganglia calcification2 tests
    Immunodeficiency 392 tests
    Immunodeficiency 402 tests
    Immunodeficiency 422 tests
    Immunodeficiency 513 tests
    Immunodeficiency 672 tests
    Immunodeficiency 83 tests
    Immunodeficiency due to defect in cd3-zeta3 tests
    Immunodeficiency due to defect in mapbp-interacting protein2 tests
    Immunodeficiency without anhidrotic ectodermal dysplasia2 tests
    Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia2 tests
    Immunodeficiency, common variable, 121 test
    Immunodeficiency-centromeric instability-facial anomalies syndrome 12 tests
    Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
    Immunoglobulin A deficiency 22 tests
    Incontinentia pigmenti syndrome2 tests
    Indifference to pain, congenital, autosomal recessive3 tests
    Infantile GM1 gangliosidosis4 tests
    Infantile convulsions and choreoathetosis4 tests
    Infantile cortical hyperostosis2 tests
    Infantile hypophosphatasia2 tests
    Infantile myofibromatosis 23 tests
    Infantile neuroaxonal dystrophy3 tests
    Infantile nystagmus, X-linked2 tests
    Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations2 tests
    Infertility2 tests
    Inflammatory bowel disease 13 tests
    Inflammatory bowel disease 172 tests
    Inflammatory bowel disease 191 test
    Inflammatory bowel disease 25, autosomal recessive2 tests
    Inflammatory bowel disease 28, autosomal recessive3 tests
    Inflammatory skin and bowel disease, neonatal 12 tests
    Inflammatory skin and bowel disease, neonatal, 22 tests
    Inosine triphosphatase deficiency3 tests
    Insulin-dependent diabetes mellitus secretory diarrhea syndrome3 tests
    Intellectual developmental disorder with persistence of fetal hemoglobin2 tests
    Intellectual disability1 test
    Intellectual disability, X-linked 213 tests
    Intellectual disability, X-linked syndromic, Turner type2 tests
    Intellectual disability, autosomal dominant 92 tests
    Interleukin 2 receptor, alpha, deficiency of3 tests
    Intervertebral disc disorder3 tests
    Intestinal polyposis4 tests
    Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked6 tests
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies4 tests
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency6 tests
    Invasive pneumococcal disease, recurrent isolated, 12 tests
    Iodotyrosine deiodination defect1 test
    Iodotyrosyl coupling defect1 test
    Irido-corneo-trabecular dysgenesis7 tests
    Isovaleryl-CoA dehydrogenase deficiency3 tests
    Jackson-Weiss syndrome1 test
    Jalili syndrome3 tests
    Jervell and Lange-Nielsen syndrome 16 tests
    Jervell and Lange-Nielsen syndrome 24 tests
    Joubert syndrome 13 tests
    Joubert syndrome 105 tests
    Joubert syndrome 133 tests
    Joubert syndrome 143 tests
    Joubert syndrome 153 tests
    Joubert syndrome 173 tests
    Joubert syndrome 183 tests
    Joubert syndrome 25 tests
    Joubert syndrome 205 tests
    Joubert syndrome 243 tests
    Joubert syndrome 284 tests
    Joubert syndrome 36 tests
    Joubert syndrome 43 tests
    Joubert syndrome 54 tests
    Joubert syndrome 63 tests
    Joubert syndrome 74 tests
    Joubert syndrome 83 tests
    Joubert syndrome 93 tests
    Joubert syndrome with hepatic defect4 tests
    Junctional epidermolysis bullosa gravis of Herlitz1 test
    Junctional epidermolysis bullosa, non-Herlitz type1 test
    Juvenile myelomonocytic leukemia17 tests
    Juvenile myoclonic epilepsy3 tests
    Juvenile nephropathic cystinosis2 tests
    Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10 tests
    Juvenile retinoschisis3 tests
    KBG syndrome2 tests
    Kabuki syndrome 13 tests
    Kabuki syndrome 22 tests
    Kartagener syndrome2 tests
    Keratitis fugax hereditaria2 tests
    Keratitis, hereditary7 tests
    Keratitis-ichthyosis-deafness syndrome, autosomal dominant5 tests
    Keratosis follicularis3 tests
    Keratosis follicularis spinulosa decalvans, X-linked2 tests
    Keratosis palmoplantaris striata II6 tests
    Kindler syndrome1 test
    Kleefstra syndrome 14 tests
    Klinefelter syndrome2 tests
    Kniest dysplasia3 tests
    Knobloch syndrome 13 tests
    Known OR suspected fetal abnormality affecting management of mother1 test
    Knuckle pads, deafness AND leukonychia syndrome5 tests
    Koolen-de Vries syndrome3 tests
    Kostmann syndrome4 tests
    Krabbe disease, atypical, due to saposin A deficiency1 test
    Kufor-Rakeb syndrome2 tests
    Kugelberg-Welander disease6 tests
    L-2-hydroxyglutaric aciduria2 tests
    LEOPARD syndrome 17 tests
    LEOPARD syndrome 28 tests
    LEOPARD syndrome 36 tests
    Lafora disease3 tests
    Lamb-shaffer syndrome2 tests
    Langer-Giedion syndrome3 tests
    Large congenital melanocytic nevus12 tests
    Laryngo-onycho-cutaneous syndrome1 test
    Lateral meningocele syndrome3 tests
    Lattice corneal dystrophy Type I2 tests
    Laurin-Sandrow syndrome1 test
    Leber congenital amaurosis 13 tests
    Leber congenital amaurosis 104 tests
    Leber congenital amaurosis 113 tests
    Leber congenital amaurosis 123 tests
    Leber congenital amaurosis 134 tests
    Leber congenital amaurosis 143 tests
    Leber congenital amaurosis 153 tests
    Leber congenital amaurosis 164 tests
    Leber congenital amaurosis 24 tests
    Leber congenital amaurosis 33 tests
    Leber congenital amaurosis 43 tests
    Leber congenital amaurosis 54 tests
    Leber congenital amaurosis 63 tests
    Leber congenital amaurosis 74 tests
    Leber congenital amaurosis 84 tests
    Leber congenital amaurosis 93 tests
    Left ventricular noncompaction 13 tests
    Left ventricular noncompaction 105 tests
    Left ventricular noncompaction 65 tests
    Left ventricular noncompaction 73 tests
    Left ventricular noncompaction 84 tests
    Legius syndrome4 tests
    Leigh syndrome8 tests
    Lenz microphthalmia syndrome2 tests
    Lesch-Nyhan syndrome2 tests
    Lethal acantholytic epidermolysis bullosa6 tests
    Lethal arthrogryposis with anterior horn cell disease1 test
    Lethal congenital contracture syndrome 11 test
    Lethal tight skin contracture syndrome5 tests
    Leucine-induced hypoglycemia3 tests
    Leukocyte adhesion deficiency 13 tests
    Leukocyte adhesion deficiency type II5 tests
    Leukocyte adhesion deficiency, type III2 tests
    Leukoencephalopathy with ataxia3 tests
    Leukoencephalopathy with vanishing white matter1 test
    Levy-Hollister syndrome5 tests
    Lewy body dementia5 tests
    Li-Fraumeni syndrome 114 tests
    Li-Fraumeni syndrome 28 tests
    Lig4 syndrome4 tests
    Limb-girdle muscular dystrophy, type 2A1 test
    Limb-girdle muscular dystrophy, type 2J3 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C24 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C35 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C46 tests
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C58 tests
    Linear skin defects with multiple congenital anomalies 15 tests
    Lipodystrophy, congenital generalized, type 32 tests
    Lissencephaly 2, X-linked6 tests
    Lissencephaly 35 tests
    Lissencephaly 44 tests
    Lissencephaly due to LIS1 mutation5 tests
    Lissencephaly, X-linked4 tests
    Loeys-Dietz syndrome 13 tests
    Loeys-Dietz syndrome 23 tests
    Loeys-Dietz syndrome 33 tests
    Loeys-Dietz syndrome 43 tests
    Loeys-Dietz syndrome 55 tests
    Long QT syndrome5 tests
    Long QT syndrome 16 tests
    Long QT syndrome 104 tests
    Long QT syndrome 115 tests
    Long QT syndrome 124 tests
    Long QT syndrome 134 tests
    Long QT syndrome 145 tests
    Long QT syndrome 155 tests
    Long QT syndrome 25 tests
    Long QT syndrome 310 tests
    Long QT syndrome 54 tests
    Long QT syndrome 64 tests
    Long QT syndrome 810 tests
    Long QT syndrome 96 tests
    Long chain fatty acids, defect in transport of1 test
    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency5 tests
    Lowe syndrome2 tests
    Lucey-Driscoll syndrome1 test
    Lung cancer2 tests
    Lung carcinoma13 tests
    Luscan-lumish syndrome2 tests
    Lymphangiomyomatosis13 tests
    Lymphedema, primary, with myelodysplasia5 tests
    Lymphoma, Non-Hodgkin, Familial1 test
    Lymphoproliferative syndrome 12 tests
    Lymphoproliferative syndrome 1, X-linked3 tests
    Lymphoproliferative syndrome 22 tests
    Lymphoproliferative syndrome 2, X-linked3 tests
    Lynch syndrome I12 tests
    Lynch syndrome II12 tests
    Lysinuric protein intolerance2 tests
    Lysosomal acid lipase deficiency3 tests
    MASA syndrome2 tests
    MASP2 deficiency2 tests
    MASS syndrome4 tests
    MEHMO syndrome2 tests
    MEND syndrome2 tests
    MENTAL RETARDATION, X-LINKED, SYNDROMIC, 352 tests
    METHYLMALONIC ACIDURIA, mut(-) TYPE1 test
    METHYLMALONIC ACIDURIA, mut(0) TYPE1 test
    MORM syndrome3 tests
    MPDU1-CDG3 tests
    MPI-CDG5 tests
    MYH-associated polyposis5 tests
    MYH7-related late-onset scapuloperoneal muscular dystrophy5 tests
    Macrocephaly with multiple epiphyseal dysplasia and distinctive facies3 tests
    Macrocephaly/autism syndrome17 tests
    Macroglobulinemia, Waldenstrom, susceptibility to, 12 tests
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss4 tests
    Macular degeneration, X-linked atrophic3 tests
    Macular degeneration, age-related, 152 tests
    Macular degeneration, early-onset3 tests
    Macular dystrophy with central cone involvement6 tests
    Macular dystrophy, patterned, 13 tests
    Macular dystrophy, vitelliform, 53 tests
    Macular dystrophy, vitelliform, adult-onset3 tests
    Majeed syndrome2 tests
    Malignant melanoma of skin1 test
    Malignant tumor of esophagus6 tests
    Malignant tumor of kidney1 test
    Malignant tumor of prostate23 tests
    Malignant tumor of testis5 tests
    Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome4 tests
    Mandibuloacral dysplasia with type A lipodystrophy5 tests
    Maple syrup urine disease4 tests
    Maple syrup urine disease, type 33 tests
    Marfan lipodystrophy syndrome4 tests
    Marfan syndrome4 tests
    Marshall syndrome3 tests
    Marshall-Smith syndrome2 tests
    Mastocytosis2 tests
    Matthew-Wood syndrome3 tests
    Maturity-onset diabetes of the young, type 101 test
    Maturity-onset diabetes of the young, type 135 tests
    McKusick-Kaufman syndrome3 tests
    Meacham syndrome5 tests
    Meckel syndrome type 14 tests
    Meckel syndrome type 63 tests
    Meckel syndrome type 73 tests
    Meckel syndrome type 83 tests
    Meckel syndrome, type 115 tests
    Meckel syndrome, type 25 tests
    Meckel syndrome, type 33 tests
    Meckel syndrome, type 44 tests
    Meckel syndrome, type 54 tests
    Meconium ileus1 test
    Medium-chain acyl-coenzyme A dehydrogenase deficiency5 tests
    Medulloblastoma13 tests
    Megalencephalic leukoencephalopathy with subcortical cysts 11 test
    Melanoma and neural system tumor syndrome7 tests
    Melanoma, cutaneous malignant, susceptibility to, 104 tests
    Melanoma-pancreatic cancer syndrome7 tests
    Melnick-Needles syndrome6 tests
    Meningioma, familial17 tests
    Menke-Hennekam syndrome 15 tests
    Menke-Hennekam syndrome 21 test
    Menkes kinky-hair syndrome5 tests
    Mental retardation 30, X-linked3 tests
    Mental retardation 49, X-linked2 tests
    Mental retardation 58, X-linked2 tests
    Mental retardation 63, X-linked2 tests
    Mental retardation 9, X-linked2 tests
    Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance5 tests
    Mental retardation and distinctive facial features with or without cardiac defects4 tests
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia5 tests
    Mental retardation with language impairment and with or without autistic features2 tests
    Mental retardation, X-linked 13 tests
    Mental retardation, X-linked 1022 tests
    Mental retardation, X-linked 122 tests
    Mental retardation, X-linked 192 tests
    Mental retardation, X-linked 725 tests
    Mental retardation, X-linked 932 tests
    Mental retardation, X-linked 963 tests
    Mental retardation, X-linked 982 tests
    Mental retardation, X-linked 992 tests
    Mental retardation, X-linked 99, syndromic, female-restricted2 tests
    Mental retardation, X-linked, syndromic 137 tests
    Mental retardation, X-linked, syndromic 332 tests
    Mental retardation, X-linked, syndromic, Hedera type3 tests
    Mental retardation, X-linked, syndromic, Raymond type2 tests
    Mental retardation, X-linked, syndromic, wu type5 tests
    Mental retardation, autosomal dominant 14 tests
    Mental retardation, autosomal dominant 133 tests
    Mental retardation, autosomal dominant 142 tests
    Mental retardation, autosomal dominant 157 tests
    Mental retardation, autosomal dominant 169 tests
    Mental retardation, autosomal dominant 182 tests
    Mental retardation, autosomal dominant 192 tests
    Mental retardation, autosomal dominant 212 tests
    Mental retardation, autosomal dominant 232 tests
    Mental retardation, autosomal dominant 242 tests
    Mental retardation, autosomal dominant 262 tests
    Mental retardation, autosomal dominant 272 tests
    Mental retardation, autosomal dominant 294 tests
    Mental retardation, autosomal dominant 302 tests
    Mental retardation, autosomal dominant 312 tests
    Mental retardation, autosomal dominant 384 tests
    Mental retardation, autosomal dominant 392 tests
    Mental retardation, autosomal dominant 42 tests
    Mental retardation, autosomal dominant 412 tests
    Mental retardation, autosomal dominant 424 tests
    Mental retardation, autosomal dominant 442 tests
    Mental retardation, autosomal dominant 54 tests
    Mental retardation, autosomal dominant 64 tests
    Mental retardation, autosomal dominant 75 tests
    Mental retardation, autosomal recessive 123 tests
    Mental retardation, autosomal recessive 132 tests
    Mental retardation, autosomal recessive 152 tests
    Mental retardation, autosomal recessive 182 tests
    Mental retardation, autosomal recessive 272 tests
    Mental retardation, autosomal recessive 32 tests
    Mental retardation, autosomal recessive 372 tests
    Mental retardation, autosomal recessive 52 tests
    Mental retardation, autosomal recessive 62 tests
    Mental retardation, autosomal recessive 72 tests
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations4 tests
    Mental retardation, syndromic 14, X-linked3 tests
    Mental retardation, syndromic, Claes-Jensen type, X-linked5 tests
    Mental retardation, with or without seizures, ARX-related, X-linked6 tests
    Mesothelioma1 test
    Mesothelioma, malignant5 tests
    Metabolic syndrome X5 tests
    Metachondromatosis7 tests
    Metachromatic leukodystrophy2 tests
    Metaphyseal chondrodysplasia, McKusick type4 tests
    Metaphyseal dysplasia without hypotrichosis4 tests
    Methemoglobinemia, alpha type5 tests
    Methemoglobinemia, beta-globin type4 tests
    Methylcobalamin deficiency type cblG1 test
    Methylcrotonyl-CoA carboxylase deficiency1 test
    Methylmalonic acidemia1 test
    Methylmalonic acidemia with homocystinuria cblD4 tests
    Methylmalonic aciduria and homocystinuria type cblF2 tests
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5 tests
    Methylmalonyl-CoA epimerase deficiency2 tests
    Mevalonic aciduria3 tests
    Microcephalic osteodysplastic primordial dwarfism type II1 test
    Microcephaly with mental retardation and digital anomalies1 test
    Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation4 tests
    Microcephaly, normal intelligence and immunodeficiency12 tests
    Microcephaly, postnatal progressive, with seizures and brain atrophy2 tests
    Microcephaly-capillary malformation syndrome1 test
    Microdeletion syndromes1 test
    Microduplication syndromes1 test
    Microphthalmia with brain and digit anomalies3 tests
    Microphthalmia with limb anomalies3 tests
    Microphthalmia, isolated 25 tests
    Microphthalmia, isolated 54 tests
    Microphthalmia, isolated, with coloboma 103 tests
    Microphthalmia, isolated, with coloboma 35 tests
    Microphthalmia, isolated, with coloboma 51 test
    Microvascular complications of diabetes 41 test
    Miller Dieker syndrome4 tests
    Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
    Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)4 tests
    Mitochondrial DNA depletion syndrome 4B, MNGIE type4 tests
    Mitochondrial complex 1 deficiency, nuclear type 102 tests
    Mitochondrial complex 1 deficiency, nuclear type 123 tests
    Mitochondrial complex 1 deficiency, nuclear type 132 tests
    Mitochondrial complex 1 deficiency, nuclear type 172 tests
    Mitochondrial complex 1 deficiency, nuclear type 22 tests
    Mitochondrial complex 1 deficiency, nuclear type 222 tests
    Mitochondrial complex 1 deficiency, nuclear type 232 tests
    Mitochondrial complex 1 deficiency, nuclear type 262 tests
    Mitochondrial complex 1 deficiency, nuclear type 32 tests
    Mitochondrial complex 1 deficiency, nuclear type 82 tests
    Mitochondrial complex I deficiency, nuclear type 14 tests
    Mitochondrial complex II deficiency, nuclear type 17 tests
    Mitochondrial complex III deficiency, nuclear type 11 test
    Mitochondrial complex IV deficiency2 tests
    Mitochondrial trifunctional protein deficiency6 tests
    Miyoshi muscular dystrophy 11 test
    Molybdenum cofactor deficiency, complementation group C3 tests
    Mosaic trisomy 151 test
    Mowat-Wilson syndrome4 tests
    Moyamoya disease 53 tests
    Mucolipidosis type II1 test
    Mucolipidosis type III gamma4 tests
    Mucolipidosis type IV2 tests
    Mucopolysaccharidosis1 test
    Mucopolysaccharidosis type 11 test
    Mucopolysaccharidosis type 66 tests
    Mucopolysaccharidosis type 74 tests
    Mucopolysaccharidosis, MPS-I-H/S6 tests
    Mucopolysaccharidosis, MPS-I-S5 tests
    Mucopolysaccharidosis, MPS-II5 tests
    Mucopolysaccharidosis, MPS-III-A6 tests
    Mucopolysaccharidosis, MPS-III-B4 tests
    Mucopolysaccharidosis, MPS-III-C4 tests
    Mucopolysaccharidosis, MPS-III-D4 tests
    Mucopolysaccharidosis, MPS-IV-A2 tests
    Mucopolysaccharidosis, MPS-IV-B5 tests
    Muenke syndrome5 tests
    Muir-Torré syndrome12 tests
    Multiple acyl-CoA dehydrogenase deficiency3 tests
    Multiple congenital anomalies2 tests
    Multiple congenital anomalies-hypotonia-seizures syndrome 12 tests
    Multiple congenital anomalies-hypotonia-seizures syndrome 23 tests
    Multiple endocrine neoplasia, type 17 tests
    Multiple endocrine neoplasia, type 2a5 tests
    Multiple endocrine neoplasia, type 2b5 tests
    Multiple endocrine neoplasia, type 44 tests
    Multiple epiphyseal dysplasia 63 tests
    Multiple epiphyseal dysplasia type 41 test
    Multiple fibrofolliculomas3 tests
    Multiple gastrointestinal atresias3 tests
    Multiple myeloma4 tests
    Multiple sclerosis, susceptibility to, 52 tests
    Multiple self-healing squamous epithelioma3 tests
    Multiple sulfatase deficiency2 tests
    Multisystemic smooth muscle dysfunction syndrome3 tests
    Mungan syndrome3 tests
    Muscle eye brain disease5 tests
    Muscular dystrophy, limb-girdle, autosomal dominant 41 test
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 tests
    Mutilating keratoderma5 tests
    Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
    Myasthenic syndrome, congenital, 184 tests
    Myasthenic syndrome, congenital, 23, presynaptic2 tests
    Myasthenic syndrome, congenital, 4a, slow-channel1 test
    Myasthenic syndrome, congenital, 4b, fast-channel1 test
    Mycobacterial and viral infections, susceptibility to, autosomal recessive3 tests
    Mycobacterium tuberculosis, susceptibility to2 tests
    Myd88 deficiency2 tests
    Myelodysplastic syndrome5 tests
    Myelofibrosis3 tests
    Myhre syndrome10 tests
    Myoclonic epilepsy, familial infantile5 tests
    Myoclonic-atonic epilepsy4 tests
    Myoclonus, familial, 24 tests
    Myofibrillar myopathy 15 tests
    Myofibrillar myopathy, BAG3-related4 tests
    Myofibrillar myopathy, ZASP-related6 tests
    Myofibrillar myopathy, filamin C-related4 tests
    Myopathy with postural muscle atrophy, X-linked3 tests
    Myopathy, distal, 15 tests
    Myopathy, distal, 44 tests
    Myopathy, distal, with anterior tibial onset1 test
    Myopathy, early-onset, with fatal cardiomyopathy3 tests
    Myopathy, lactic acidosis, and sideroblastic anemia 11 test
    Myopathy, myofibrillar, 9, with early respiratory failure3 tests
    Myopathy, myosin storage, autosomal recessive5 tests
    Myopathy, reducing body, X-linked, childhood-onset3 tests
    Myopathy, reducing body, X-linked, early-onset, severe3 tests
    Myopathy, tubular aggregate, 13 tests
    Myopathy, tubular aggregate, 24 tests
    Myosin storage myopathy5 tests
    N-terminal acetyltransferase deficiency2 tests
    NDE1-related microhydranencephaly4 tests
    Nail disorder, nonsyndromic congenital, 81 test
    Namaqualand hip dysplasia3 tests
    Nance-Horan syndrome2 tests
    Nanophthalmos 24 tests
    Nasopharyngeal carcinoma14 tests
    Navajo neurohepatopathy1 test
    Naxos disease5 tests
    Nemaline myopathy 11, autosomal recessive4 tests
    Nemaline myopathy 22 tests
    Neonatal intrahepatic cholestasis caused by citrin deficiency3 tests
    Neonatal severe hyperparathyroidism6 tests
    Neoplasm3 tests
    Neoplasm of ovary9 tests
    Neoplasm of stomach4 tests
    Nephrogenic diabetes insipidus, X-linked1 test
    Nephrogenic diabetes insipidus, autosomal2 tests
    Nephrogenic syndrome of inappropriate antidiuresis1 test
    Nephronophthisis 13 tests
    Nephronophthisis 113 tests
    Nephronophthisis 123 tests
    Nephronophthisis 133 tests
    Nephronophthisis 143 tests
    Nephronophthisis 153 tests
    Nephronophthisis 33 tests
    Nephronophthisis 43 tests
    Nephropathic cystinosis2 tests
    Nephrotic syndrome type 153 tests
    Nephrotic syndrome, type 45 tests
    Nephrotic syndrome, type 72 tests
    Netherton syndrome2 tests
    Neu-Laxova syndrome 14 tests
    Neural tube defect3 tests
    Neural tube defects, folate-sensitive5 tests
    Neuroblastoma 24 tests
    Neuroblastoma 34 tests
    Neurocutaneous melanocytosis8 tests
    Neurodegeneration with brain iron accumulation 2b3 tests
    Neurodegeneration with brain iron accumulation 52 tests
    Neurodevelopmental disorder with involuntary movements3 tests
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3 tests
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive3 tests
    Neurofibromatosis, familial spinal14 tests
    Neurofibromatosis, type 114 tests
    Neurofibromatosis, type 24 tests
    Neurofibromatosis-Noonan syndrome14 tests
    Neurogenic scapuloperoneal syndrome, Kaeser type5 tests
    Neuronal ceroid lipofuscinosis 16 tests
    Neuronal ceroid lipofuscinosis 105 tests
    Neuronal ceroid lipofuscinosis 36 tests
    Neuronal ceroid lipofuscinosis 4B5 tests
    Neuronal ceroid lipofuscinosis 56 tests
    Neuronal ceroid lipofuscinosis 66 tests
    Neuronal ceroid lipofuscinosis 76 tests
    Neuronal ceroid lipofuscinosis 86 tests
    Neurophysiologic defect in schizophrenia3 tests
    Neutral 1 amino acid transport defect1 test
    Neutropenia, nonimmune chronic idiopathic, of adults2 tests
    Neutropenia, severe congenital 1, autosomal dominant2 tests
    Neutropenia, severe congenital, 7, autosomal recessive2 tests
    Neutrophil immunodeficiency syndrome3 tests
    Newfoundland rod-cone dystrophy4 tests
    Nicolaides-Baraitser syndrome2 tests
    Niemann-Pick disease type C11 test
    Niemann-Pick disease, type A5 tests
    Niemann-Pick disease, type B5 tests
    Niemann-Pick disease, type C21 test
    Night blindness, congenital stationary, type 1g2 tests
    Nijmegen breakage syndrome-like disorder2 tests
    Non-Hodgkin lymphoma3 tests
    Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
    Non-ketotic hyperglycinemia5 tests
    Non-small cell lung cancer1 test
    Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
    Noonan syndrome 17 tests
    Noonan syndrome 102 tests
    Noonan syndrome 22 tests
    Noonan syndrome 36 tests
    Noonan syndrome 46 tests
    Noonan syndrome 58 tests
    Noonan syndrome 68 tests
    Noonan syndrome 76 tests
    Noonan syndrome 86 tests
    Noonan syndrome 92 tests
    Noonan syndrome-like disorder with loose anagen hair 16 tests
    Noonan syndrome-like disorder with loose anagen hair 22 tests
    Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia6 tests
    Norman-Roberts syndrome4 tests
    Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22 tests
    Nystagmus 6, congenital, X-linked3 tests
    Obsessive-compulsive disorder2 tests
    Occult macular dystrophy3 tests
    Ocular albinism, type I3 tests
    Ocular albinism, type II4 tests
    Ocular cystinosis2 tests
    Oculocutaneous albinism type 1B3 tests
    Oculocutaneous albinism type 33 tests
    Oculocutaneous albinism type 43 tests
    Oculodentodigital dysplasia2 tests
    Oculodentodigital dysplasia, autosomal recessive2 tests
    Oculofaciocardiodental syndrome8 tests
    Oculootoradial syndrome1 test
    Oculotrichoanal syndrome3 tests
    Odonto-onycho-dermal dysplasia1 test
    Oguchi disease3 tests
    Oguchi disease 23 tests
    Ohdo syndrome, X-linked5 tests
    Oligodontia-colorectal cancer syndrome4 tests
    Opitz GBBB syndrome, type I2 tests
    Optic atrophy 34 tests
    Optic atrophy 74 tests
    Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy4 tests
    Optic nerve hypoplasia, bilateral7 tests
    Ornithine aminotransferase deficiency5 tests
    Ornithine carbamoyltransferase deficiency6 tests
    Orofacial cleft 113 tests
    Orofacial-digital syndrome IV3 tests
    Orofaciodigital syndrome I5 tests
    Orofaciodigital syndrome type 63 tests
    Orotic aciduria1 test
    Osteodysplastic primordial dwarfism, type 11 test
    Osteofibrous dysplasia3 tests
    Osteogenesis imperfecta type I2 tests
    Osteogenesis imperfecta type III2 tests
    Osteogenesis imperfecta with normal sclerae, dominant form2 tests
    Osteogenesis imperfecta, recessive perinatal lethal2 tests
    Osteogenesis imperfecta, type 192 tests
    Osteoglophonic dysplasia1 test
    Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
    Osteoporosis with pseudoglioma3 tests
    Otitis media, susceptibility to3 tests
    Oto-palato-digital syndrome, type I6 tests
    Oto-palato-digital syndrome, type II6 tests
    Otofaciocervical syndrome 15 tests
    Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
    Otospondylomegaepiphyseal dysplasia, autosomal recessive4 tests
    Ovalocytosis, southeast Asian1 test
    Ovarian cancer1 test
    PERCHING syndrome3 tests
    Pallister-Hall syndrome3 tests
    Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked2 tests
    Palmoplantar keratoderma-deafness syndrome5 tests
    Pancreatic agenesis and congenital heart disease3 tests
    Pancreatic cancer 211 tests
    Pancreatic cancer 38 tests
    Pancreatic cancer 410 tests
    Pancreatitis2 tests
    Papillon-Lefèvre syndrome2 tests
    Paragangliomas 12 tests
    Paragangliomas 24 tests
    Paragangliomas 35 tests
    Paragangliomas 45 tests
    Paragangliomas 57 tests
    Parathyroid carcinoma4 tests
    Parietal foramina 11 test
    Parietal foramina with cleidocranial dysplasia1 test
    Parkinson disease 143 tests
    Parkinson disease, late-onset5 tests
    Parkinsonism with spasticity, X-linked3 tests
    Paroxysmal extreme pain disorder3 tests
    Paroxysmal familial ventricular fibrillation 110 tests
    Paroxysmal nocturnal hemoglobinuria 13 tests
    Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3 tests
    Partial albinism2 tests
    Partial duplication of the short arm of chromosome 161 test
    Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
    Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2 tests
    Partington syndrome6 tests
    Pelger-Huët anomaly3 tests
    Pelizaeus-Merzbacher disease3 tests
    Pena-Shokeir syndrome type I1 test
    Pendred syndrome3 tests
    Periodontitis, aggressive, 12 tests
    Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease4 tests
    Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
    Periventricular nodular heterotopia 16 tests
    Perlman syndrome5 tests
    Permanent neonatal diabetes mellitus6 tests
    Peroxisomal acyl-CoA oxidase deficiency1 test
    Peroxisome biogenesis disorder 12A5 tests
    Peroxisome biogenesis disorder 13A5 tests
    Peroxisome biogenesis disorder 1A (Zellweger)6 tests
    Peroxisome biogenesis disorder 1B6 tests
    Peroxisome biogenesis disorder 2A (Zellweger)5 tests
    Peroxisome biogenesis disorder 2B5 tests
    Peroxisome biogenesis disorder 4B6 tests
    Peroxisome biogenesis disorder 4a (zellweger)6 tests
    Peroxisome biogenesis disorder 5B7 tests
    Peroxisome biogenesis disorder 5a (zellweger)7 tests
    Peroxisome biogenesis disorder 6A6 tests
    Peroxisome biogenesis disorder 6B6 tests
    Peroxisome biogenesis disorder 8A6 tests
    Peroxisome biogenesis disorder 8B6 tests
    Peroxisome biogenesis disorder 9B6 tests
    Perrault syndrome 11 test
    Pettigrew syndrome5 tests
    Peutz-Jeghers syndrome9 tests
    Pfeiffer syndrome1 test
    Phenylketonuria6 tests
    Pheochromocytoma10 tests
    Phosphate transport defect4 tests
    Phosphoglycerate dehydrogenase deficiency4 tests
    Phosphoglycerate kinase 1 deficiency4 tests
    Phosphoribosylpyrophosphate synthetase superactivity7 tests
    Phytanic acid storage disease7 tests
    Pierpont syndrome2 tests
    Pigmentary pallidal degeneration6 tests
    Pigmentary retinal dystrophy4 tests
    Pigmented nodular adrenocortical disease, primary, 15 tests
    Pigmented paravenous chorioretinal atrophy4 tests
    Pili torti-deafness syndrome1 test
    Pilomatrixoma2 tests
    Pitt-Hopkins syndrome4 tests
    Pitt-Hopkins-like syndrome 16 tests
    Pitt-Hopkins-like syndrome 25 tests
    Pituitary adenoma1 test
    Pituitary adenoma 5, multiple types6 tests
    Pituitary hormone deficiency, combined 22 tests
    Pituitary hormone deficiency, combined 64 tests
    Pituitary hormone deficiency, combined, 11 test
    Pityriasis rubra pilaris2 tests
    Platyspondylic dysplasia, Torrance type3 tests
    Pneumothorax, primary spontaneous3 tests
    Poikiloderma with neutropenia2 tests
    Polyarteritis nodosa, childhoood-onset2 tests
    Polycystic liver disease 4 with or without kidney cysts3 tests
    Polydactyly, preaxial II1 test
    Polyglandular autoimmune syndrome, type 13 tests
    Polyglucosan body myopathy 1 with or without immunodeficiency2 tests
    Polymicrogyria with optic nerve hypoplasia3 tests
    Polymicrogyria with or without vascular-type ehlers-danlos syndrome3 tests
    Polymicrogyria, asymmetric3 tests
    Polymicrogyria, bilateral frontoparietal5 tests
    Polymicrogyria, bilateral perisylvian, autosomal recessive5 tests
    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract4 tests
    Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal2 tests
    Pontocerebellar hypoplasia type 1A2 tests
    Pontocerebellar hypoplasia type 2D1 test
    Pontocerebellar hypoplasia type 66 tests
    Porokeratosis 3, disseminated superficial actinic type3 tests
    Porphobilinogen synthase deficiency1 test
    Porphyria cutanea tarda1 test
    Postaxial polydactyly type A13 tests
    Posterior column ataxia-retinitis pigmentosa syndrome3 tests
    Postmenopausal osteoporosis5 tests
    Prader-Willi syndrome3 tests
    Preaxial polydactyly 43 tests
    Pregnancy loss, recurrent, susceptibility to, 11 test
    Premature ovarian failure 18 tests
    Premature ovarian failure 114 tests
    Premature ovarian failure 151 test
    Pretibial epidermolysis bullosa1 test
    Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
    Primary aldosteronism, seizures, and neurologic abnormalities2 tests
    Primary autosomal recessive microcephaly 14 tests
    Primary autosomal recessive microcephaly 24 tests
    Primary autosomal recessive microcephaly 31 test
    Primary autosomal recessive microcephaly 41 test
    Primary autosomal recessive microcephaly 54 tests
    Primary autosomal recessive microcephaly 61 test
    Primary autosomal recessive microcephaly 71 test
    Primary autosomal recessive microcephaly 81 test
    Primary autosomal recessive microcephaly 91 test
    Primary dilated cardiomyopathy3 tests
    Primary erythromelalgia3 tests
    Primary familial hypertrophic cardiomyopathy4 tests
    Primary hyperoxaluria, type I2 tests
    Primary hyperoxaluria, type II2 tests
    Primary hyperoxaluria, type III3 tests
    Primary pulmonary hypertension 12 tests
    Primary pulmonary hypertension 22 tests
    Primary pulmonary hypertension 32 tests
    Primary pulmonary hypertension 42 tests
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14 tests
    Progressive familial heart block type IB4 tests
    Progressive familial heart block, type 1A10 tests
    Progressive familial intrahepatic cholestasis 21 test
    Progressive myoclonus epilepsy with ataxia3 tests
    Progressive sclerosing poliodystrophy4 tests
    Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome3 tests
    Properdin deficiency, X-linked2 tests
    Propionic acidemia7 tests
    Prostate cancer, hereditary, 23 tests
    Prostate cancer, hereditary, 94 tests
    Protoporphyria, erythropoietic, 11 test
    Protoporphyria, erythropoietic, X-linked1 test
    Pseudo von Willebrand disease1 test
    Pseudo-Hurler polydystrophy1 test
    Pseudohypoaldosteronism type 2E2 tests
    Psoriasis susceptibility 22 tests
    Psoriasis susceptibility 72 tests
    Psoriatic arthritis, susceptibility to3 tests
    Pulmonary fibrosis and/or bone marrow failure, telomere-related, 14 tests
    Pulmonary fibrosis and/or bone marrow failure, telomere-related, 24 tests
    Pulmonary fibrosis and/or bone marrow failure, telomere-related, 36 tests
    Pulmonary hypertension, neonatal, susceptibility to2 tests
    Pulmonary venoocclusive disease 1, autosomal dominant2 tests
    Pulmonary venoocclusive disease 2, autosomal recessive2 tests
    Pure gonadal dysgenesis 46,XY1 test
    Purine-nucleoside phosphorylase deficiency4 tests
    Pustular psoriasis, generalized2 tests
    Pyknodysostosis1 test
    Pyridoxal phosphate-responsive seizures4 tests
    Pyridoxine-dependent epilepsy4 tests
    Pyruvate dehydrogenase E1-alpha deficiency3 tests
    Pyruvate dehydrogenase E1-beta deficiency1 test
    Pyruvate dehydrogenase lipoic acid synthetase deficiency3 tests
    RAS-associated autoimmune leukoproliferative disorder8 tests
    RHYNS syndrome3 tests
    Rapadilino syndrome2 tests
    Recessive dystrophic epidermolysis bullosa1 test
    Recurrent pregnancy loss 41 test
    Regressive spondylometaphyseal dysplasia3 tests
    Reis-Bucklers' corneal dystrophy2 tests
    Renal carnitine transport defect8 tests
    Renal cell carcinoma, nonpapillary8 tests
    Renal cell carcinoma, papillary, 13 tests
    Renal tubular acidosis with progressive nerve deafness1 test
    Renal tubular acidosis, distal, with hemolytic anemia1 test
    Renal-hepatic-pancreatic dysplasia 13 tests
    Renpenning syndrome 15 tests
    Reticular dysgenesis3 tests
    Retinal arteries, tortuosity of3 tests
    Retinal cone dystrophy 3A3 tests
    Retinal cone dystrophy 43 tests
    Retinal dystrophy, iris coloboma, and comedogenic acne syndrome3 tests
    Retinal macular dystrophy type 23 tests
    Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations7 tests
    Retinitis pigmentosa 13 tests
    Retinitis pigmentosa 103 tests
    Retinitis pigmentosa 113 tests
    Retinitis pigmentosa 124 tests
    Retinitis pigmentosa 133 tests
    Retinitis pigmentosa 143 tests
    Retinitis pigmentosa 153 tests
    Retinitis pigmentosa 173 tests
    Retinitis pigmentosa 183 tests
    Retinitis pigmentosa 193 tests
    Retinitis pigmentosa 23 tests
    Retinitis pigmentosa 204 tests
    Retinitis pigmentosa 235 tests
    Retinitis pigmentosa 254 tests
    Retinitis pigmentosa 264 tests
    Retinitis pigmentosa 273 tests
    Retinitis pigmentosa 285 tests
    Retinitis pigmentosa 303 tests
    Retinitis pigmentosa 313 tests
    Retinitis pigmentosa 333 tests
    Retinitis pigmentosa 353 tests
    Retinitis pigmentosa 363 tests
    Retinitis pigmentosa 375 tests
    Retinitis pigmentosa 383 tests
    Retinitis pigmentosa 396 tests
    Retinitis pigmentosa 43 tests
    Retinitis pigmentosa 403 tests
    Retinitis pigmentosa 413 tests
    Retinitis pigmentosa 423 tests
    Retinitis pigmentosa 433 tests
    Retinitis pigmentosa 443 tests
    Retinitis pigmentosa 453 tests
    Retinitis pigmentosa 473 tests
    Retinitis pigmentosa 483 tests
    Retinitis pigmentosa 493 tests
    Retinitis pigmentosa 504 tests
    Retinitis pigmentosa 513 tests
    Retinitis pigmentosa 543 tests
    Retinitis pigmentosa 553 tests
    Retinitis pigmentosa 563 tests
    Retinitis pigmentosa 573 tests
    Retinitis pigmentosa 595 tests
    Retinitis pigmentosa 603 tests
    Retinitis pigmentosa 617 tests
    Retinitis pigmentosa 623 tests
    Retinitis pigmentosa 663 tests
    Retinitis pigmentosa 73 tests
    Retinitis pigmentosa 733 tests
    Retinitis pigmentosa 745 tests
    Retinitis pigmentosa 765 tests
    Retinitis pigmentosa 803 tests
    Retinitis pigmentosa and erythrocytic microcytosis2 tests
    Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
    Retinoblastoma6 tests
    Rett syndrome7 tests
    Rett syndrome, congenital variant5 tests
    Revesz syndrome3 tests
    Reynolds syndrome3 tests
    Rhabdoid tumor predisposition syndrome 17 tests
    Rhabdoid tumor predisposition syndrome 29 tests
    Rhabdomyosarcoma, embryonal, 28 tests
    Rheumatoid arthritis4 tests
    Rhizomelic chondrodysplasia punctata type 16 tests
    Rhizomelic chondrodysplasia punctata type 31 test
    Rhizomelic chondrodysplasia punctata type 55 tests
    Ring dermoid of cornea2 tests
    Rippling muscle disease 26 tests
    Ritscher-schinzel syndrome 22 tests
    Roberts-SC phocomelia syndrome1 test
    Robinow syndrome, autosomal recessive1 test
    Robinow-Sorauf syndrome1 test
    Roifman syndrome1 test
    Rothmund-Thomson syndrome type 22 tests
    Rotor syndrome1 test
    Rubinstein-Taybi syndrome2 tests
    Rubinstein-Taybi syndrome 15 tests
    Rubinstein-Taybi syndrome 21 test
    SHORT syndrome3 tests
    SLC35A2-CDG3 tests
    SUDDEN INFANT DEATH SYNDROME10 tests
    Saethre-Chotzen syndrome1 test
    Saldino-Mainzer syndrome3 tests
    Salivary gland neoplasm1 test
    Salla disease1 test
    Sandhoff disease6 tests
    Sanfilippo syndrome1 test
    Sarcoma1 test
    Sarcotubular myopathy3 tests
    Scaphocephaly, maxillary retrusion, and mental retardation1 test
    Scapuloperoneal myopathy, X-linked dominant3 tests
    Schaaf-Yang syndrome2 tests
    Schimke immuno-osseous dysplasia3 tests
    Schinzel phocomelia syndrome1 test
    Schinzel-Giedion syndrome4 tests
    Schizencephaly4 tests
    Schizophrenia4 tests
    Schizophrenia 155 tests
    Schizophrenia 175 tests
    Schnyder crystalline corneal dystrophy2 tests
    Schopf-Schulz-Passarge syndrome1 test
    Schuurs-hoeijmakers syndrome2 tests
    Schwannomatosis 17 tests
    Schwannomatosis 22 tests
    Seckel syndrome 14 tests
    Seckel syndrome 21 test
    Seckel syndrome 41 test
    Seckel syndrome 51 test
    Seckel syndrome 61 test
    Seckel syndrome 71 test
    Secondary hypothyroidism1 test
    Seizures, benign familial infantile, 24 tests
    Seizures, benign familial infantile, 35 tests
    Seizures, benign familial infantile, 54 tests
    Seizures, cortical blindness, and microcephaly syndrome2 tests
    Sengers syndrome5 tests
    Senior-Loken syndrome 13 tests
    Senior-Loken syndrome 43 tests
    Senior-Loken syndrome 53 tests
    Senior-Loken syndrome 64 tests
    Senior-Loken syndrome 73 tests
    Senior-Loken syndrome 83 tests
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
    Septo-optic dysplasia sequence2 tests
    Severe X-linked myotubular myopathy1 test
    Severe achondroplasia with developmental delay and acanthosis nigricans5 tests
    Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
    Severe combined immunodeficiency due to ADA deficiency6 tests
    Severe combined immunodeficiency due to DCLRE1C deficiency6 tests
    Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation5 tests
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive6 tests
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative4 tests
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive5 tests
    Severe congenital neutropenia 2, autosomal dominant2 tests
    Severe congenital neutropenia 4, autosomal recessive3 tests
    Severe congenital neutropenia 5, autosomal recessive3 tests
    Severe congenital neutropenia 6, autosomal recessive2 tests
    Severe myoclonic epilepsy in infancy6 tests
    Severe neonatal-onset encephalopathy with microcephaly7 tests
    Short QT syndrome 15 tests
    Short QT syndrome 26 tests
    Short QT syndrome 35 tests
    Shprintzen syndrome11 tests
    Shprintzen-Goldberg syndrome3 tests
    Shwachman-Diamond syndrome 11 test
    Sialic acid storage disease, severe infantile type1 test
    Sialuria1 test
    Sick sinus syndrome 1, autosomal recessive10 tests
    Sick sinus syndrome 2, autosomal dominant8 tests
    Sick sinus syndrome 3, susceptibility to5 tests
    Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2 tests
    Simpson-Golabi-Behmel syndrome type 110 tests
    Simpson-Golabi-Behmel syndrome, type 25 tests
    Singleton-Merten syndrome 12 tests
    Sinoatrial node dysfunction and deafness2 tests
    Sjögren-Larsson syndrome1 test
    Skin fragility-woolly hair-palmoplantar keratoderma syndrome6 tests
    Skin/hair/eye pigmentation, variation in, 13 tests
    Skin/hair/eye pigmentation, variation in, 113 tests
    Skin/hair/eye pigmentation, variation in, 33 tests
    Skin/hair/eye pigmentation, variation in, 53 tests
    Small cell lung carcinoma7 tests
    Smith-Kingsmore syndrome3 tests
    Smith-Lemli-Opitz syndrome9 tests
    Smith-Magenis syndrome6 tests
    Sneddon syndrome2 tests
    Snowflake vitreoretinal degeneration4 tests
    Soft tissue sarcoma1 test
    Solid tumor2 tests
    Solitary median maxillary central incisor syndrome1 test
    Somatotroph adenoma4 tests
    Sorsby fundus dystrophy2 tests
    Sotos syndrome 17 tests
    Sotos syndrome 22 tests
    Spastic paraplegia 30, autosomal recessive2 tests
    Spastic paraplegia 47, autosomal recessive2 tests
    Spastic paraplegia 49, autosomal recessive1 test
    Spastic paraplegia 50, autosomal recessive2 tests
    Spastic paraplegia 51, autosomal recessive2 tests
    Spastic paraplegia 52, autosomal recessive2 tests
    Spastic paraplegia 54, autosomal recessive2 tests
    Spastic paraplegia 78, autosomal recessive2 tests
    Specific granule deficiency 12 tests
    Speech-language disorder 12 tests
    Spermatogenic failure 281 test
    Spherocytosis type 11 test
    Spherocytosis type 41 test
    Spherocytosis type 51 test
    Sphingolipid activator protein 1 deficiency1 test
    Sphingomyelin/cholesterol lipidosis1 test
    Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant3 tests
    Spinal muscular atrophy, type II6 tests
    Spinal muscular atrophy, type IV6 tests
    Spinocerebellar ataxia 403 tests
    Spinocerebellar ataxia type 19/224 tests
    Spinocerebellar ataxia type 342 tests
    Spinocerebellar ataxia type 63 tests
    Spinocerebellar ataxia, autosomal recessive 123 tests
    Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
    Spondylocostal dysostosis 2, autosomal recessive1 test
    Spondyloenchondrodysplasia with immune dysregulation2 tests
    Spondyloepiphyseal dysplasia congenita3 tests
    Spondyloepiphyseal dysplasia, stanescu type3 tests
    Spondylometaphyseal dysplasia3 tests
    Spondyloperipheral dysplasia-short ulna syndrome3 tests
    Spongy degeneration of central nervous system2 tests
    Spontaneous abortion2 tests
    Squamous cell carcinoma1 test
    Squamous cell carcinoma of the head and neck1 test
    Stargardt Disease 32 tests
    Stargardt disease 14 tests
    Stargardt disease 43 tests
    Steel syndrome1 test
    Stickler syndrome type 13 tests
    Stickler syndrome type 23 tests
    Stickler syndrome, type 43 tests
    Stickler syndrome, type 53 tests
    Stickler syndrome, type I, nonsyndromic ocular3 tests
    Stiff skin syndrome4 tests
    Sting-associated vasculopathy, infantile-onset2 tests
    Stomatin-deficient cryohydrocytosis with neurologic defects5 tests
    Stormorken syndrome3 tests
    Striatal necrosis, bilateral, and progressive polyneuropathy4 tests
    Stuttering, familial persistent 12 tests
    Stüve-Wiedemann syndrome1 test
    Succinate-semialdehyde dehydrogenase deficiency4 tests
    Supravalvar aortic stenosis2 tests
    Surfactant metabolism dysfunction, pulmonary, 42 tests
    Susceptibility to hepatitis C virus5 tests
    Susceptibility to malaria6 tests
    Sweeney-Cox syndrome1 test
    Symmetric circumferential skin creases, congenital, 13 tests
    Symmetrical dyschromatosis of extremities2 tests
    Syndactyly type 32 tests
    Syndactyly, type IV1 test
    Syndactyly, type V1 test
    Syndromic X-linked intellectual disability Lubs type7 tests
    Syndromic X-linked intellectual disability Siderius type2 tests
    Syndromic X-linked intellectual disability Snyder type3 tests
    Syndromic X-linked mental retardation, Cabezas type3 tests
    Syndromic mental retardation, Nascimento type, X-linked2 tests
    Syndromic microphthalmia type 54 tests
    Synpolydactyly 11 test
    Systemic lupus erythematosus8 tests
    Systemic lupus erythematosus 92 tests
    T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
    T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations2 tests
    TARP syndrome2 tests
    TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
    Tamoxifen response1 test
    Tatton-Brown-rahman syndrome2 tests
    Tay-Sachs disease4 tests
    Telangiectasia, hereditary hemorrhagic, type 23 tests
    Telangiectasia, hereditary hemorrhagic, type 53 tests
    Temtamy syndrome2 tests
    Terminal osseous dysplasia6 tests
    Testicular anomalies with or without congenital heart disease3 tests
    Tetralogy of Fallot14 tests
    Thanatophoric dysplasia type 15 tests
    Thanatophoric dysplasia, type 25 tests
    Thiel-Behnke corneal dystrophy2 tests
    Thiopurine methyltransferase deficiency1 test
    Thrombocytopenia 13 tests
    Thrombocytosis, benign familial microcytic3 tests
    Thrombophilia due to thrombin defect4 tests
    Thrombophilia, X-linked, due to factor IX defect2 tests
    Thyroglobulin synthesis defect1 test
    Thyroid cancer1 test
    Thyroid cancer, nonmedullary, 212 tests
    Thyroid carcinoma1 test
    Thyroid dyshormonogenesis 11 test
    Thyroid dyshormonogenesis 62 tests
    Tibia, hypoplasia or aplasia of, with polydactyly1 test
    Tibial muscular dystrophy3 tests
    Tietz syndrome8 tests
    Timothy syndrome10 tests
    Tobacco addiction, susceptibility to3 tests
    Tooth agenesis, selective, 41 test
    Tooth agenesis, selective, X-linked, 11 test
    Toriello-Lacassie-Droste syndrome6 tests
    Townes-Brocks syndrome 11 test
    Transcolabamin II deficiency2 tests
    Transient bullous dermolysis of the newborn1 test
    Transient neonatal diabetes mellitus 23 tests
    Transient neonatal diabetes mellitus 35 tests
    Transposition of the great arteries, dextro-looped 14 tests
    Transposition of the great arteries, dextro-looped 32 tests
    Trichohepatoenteric syndrome 11 test
    Trichohepatoenteric syndrome 22 tests
    Trichothiodystrophy 1, photosensitive1 test
    Trichothiodystrophy 2, photosensitive1 test
    Trigonocephaly 11 test
    Trigonocephaly 23 tests
    Trisomy1 test
    Trisomy 221 test
    Trisomy X syndrome3 tests
    Tritanopia3 tests
    Tropical calcific pancreatitis2 tests
    Tuberous sclerosis 113 tests
    Tuberous sclerosis 213 tests
    Tumor susceptibility linked to germline BAP1 mutations5 tests
    Turcot syndrome13 tests
    Turner syndrome2 tests
    Type 2 diabetes mellitus10 tests
    Type I complement component 8 deficiency1 test
    Type II complement component 8 deficiency2 tests
    Tyrosinase-negative oculocutaneous albinism3 tests
    Tyrosinase-positive oculocutaneous albinism3 tests
    Tyrosinemia type 31 test
    Tyrosinemia type I5 tests
    Tyrosinemia type II1 test
    UDPglucose-4-epimerase deficiency1 test
    UV-sensitive syndrome 14 tests
    UV-sensitive syndrome 21 test
    Unverricht-Lundborg syndrome3 tests
    Urinary bladder cancer17 tests
    Uruguay faciocardiomusculoskeletal syndrome3 tests
    Usher Syndrome, Type III7 tests
    Usher syndrome type 16 tests
    Usher syndrome type 1D7 tests
    Usher syndrome type 1F7 tests
    Usher syndrome, type 1C6 tests
    Usher syndrome, type 1G5 tests
    Usher syndrome, type 1J5 tests
    Usher syndrome, type 2A6 tests
    Usher syndrome, type 2C8 tests
    Usher syndrome, type 2D5 tests
    Usher syndrome, type 3B5 tests
    VACTERL association, X-linked, with or without hydrocephalus2 tests
    Van Buchem disease type 23 tests
    Variegate porphyria2 tests
    Ventricular septal defect 13 tests
    Ventricular septal defect 34 tests
    Ventricular tachycardia, catecholaminergic polymorphic, 24 tests
    Ventricular tachycardia, catecholaminergic polymorphic, 45 tests
    Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness5 tests
    Very long chain acyl-CoA dehydrogenase deficiency6 tests
    Vici syndrome2 tests
    Visceral heterotaxy 5, autosomal3 tests
    Vitamin B12-responsive methylmalonic acidemia type cblA3 tests
    Vitamin B12-responsive methylmalonic acidemia type cblB3 tests
    Vitamin K-dependent clotting factors, combined deficiency of, 21 test
    Vitelliform macular dystrophy type 24 tests
    Vitreoretinochoroidopathy4 tests
    Vitreoretinopathy, neovascular inflammatory4 tests
    Von Hippel-Lindau syndrome8 tests
    Waardenburg syndrome type 14 tests
    Waardenburg syndrome type 2A8 tests
    Waardenburg syndrome type 2E4 tests
    Waardenburg syndrome type 34 tests
    Waardenburg syndrome type 4A4 tests
    Waardenburg syndrome type 4B4 tests
    Waardenburg syndrome type 4C4 tests
    Wagner syndrome3 tests
    Warburg micro syndrome 11 test
    Warburg micro syndrome 21 test
    Warburg micro syndrome 31 test
    Warfarin response2 tests
    Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
    Weaver syndrome2 tests
    Weill-Marchesani syndrome 24 tests
    Werdnig-Hoffmann disease6 tests
    White-sutton syndrome2 tests
    Wieacker-Wolff syndrome2 tests
    Wiedemann-Steiner syndrome2 tests
    Williams syndrome2 tests
    Wilms tumor 122 tests
    Wilson disease2 tests
    Wilson-Turner X-linked mental retardation syndrome2 tests
    Wiskott-Aldrich syndrome3 tests
    Wiskott-Aldrich syndrome 22 tests
    Wolff-Parkinson-White pattern4 tests
    Wolfram syndrome 14 tests
    Wolfram-like syndrome, autosomal dominant4 tests
    Worth disease3 tests
    Wrinkly skin syndrome3 tests
    X-Linked Mental Retardation 412 tests
    X-Linked mental retardation 902 tests
    X-linked agammaglobulinemia3 tests
    X-linked agammaglobulinemia with growth hormone deficiency3 tests
    X-linked cone-rod dystrophy 34 tests
    X-linked dystonia-parkinsonism2 tests
    X-linked hydrocephalus syndrome2 tests
    X-linked ichthyosis with steryl-sulfatase deficiency1 test
    X-linked intellectual disability-hypotonic face syndrome5 tests
    X-linked mental retardation with marfanoid habitus syndrome5 tests
    X-linked severe combined immunodeficiency6 tests
    X-linked severe congenital neutropenia3 tests
    XFE progeroid syndrome1 test
    Xeroderma pigmentosum group A1 test
    Xeroderma pigmentosum variant type1 test
    Xeroderma pigmentosum, complementation group b1 test
    Xeroderma pigmentosum, group C1 test
    Xeroderma pigmentosum, group D1 test
    Xeroderma pigmentosum, group E1 test
    Xeroderma pigmentosum, group F1 test
    Xeroderma pigmentosum, group G1 test
    Yao syndrome3 tests
    ZNF711-Related X-linked Mental Retardation2 tests
    alpha Thalassemia5 tests
    autosomal dominant palmoplantar keratoderma and congenital alopecia2 tests
    beta Thalassemia4 tests
    mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
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