Johns Hopkins Genomics DNA Diagnostic Laboratory

Johns Hopkins Genomics DNA Diagnostic Laboratory, JHGDDL
Johns Hopkins University, School of Medicine (JHU)
Department: Department of Genetic Medicine
1812 Ashland Ave, Suite 200
Baltimore, Maryland, United States 21205
Phone: 410-955-0483
Fax: 410-367-3266
Email: ddl@jhmi.edu
Website: https://www.hopkinsmedicine.org/dnadiagnostic
Affiliated with:
- The McKusick-Nathans Institute and the Department of Genetic Medicine, https://www.hopkinsmedicine.org/genetic-medicine

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GTR Lab ID: 1049, Last updated:2024-10-31

Personnel

Director: Molly Sheridan, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Hannah Shultz-Lutwyche, BS, Genetic Counselor Assistant
Phone: 410-955-0483
Fax: 410-367-3266
Email: hlutwyc1@jhmi.edu

Conditions and tests

1597 conditions/phenotypes with 15 tests
Enter text to narrow down the list

2-aminoadipic 2-oxoadipic aciduria1 test
3-Methylglutaconic aciduria type 22 tests
3MC syndrome 12 tests
3MC syndrome 21 test
3MC syndrome 31 test
Abetalipoproteinaemia1 test
Abnormal ciliary motility1 test
Achondrogenesis type II1 test
Achondrogenesis, type IB1 test
Achondroplasia2 tests
Acquired polycythemia vera1 test
Acrocallosal syndrome1 test
Acrocapitofemoral dysplasia1 test
Acrocephalosyndactyly type I2 tests
Acromelic frontonasal dysostosis1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia1 test
ACTH-independent macronodular adrenal hyperplasia 11 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome1 test
Acute lymphoid leukemia1 test
Acute myeloid leukemia3 tests
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 41 test
Adams-Oliver syndrome 51 test
Adams-Oliver syndrome 61 test
Adenine phosphoribosyltransferase deficiency1 test
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy1 test
Adult hypophosphatasia2 tests
Adult polyglucosan body disease1 test
Age related macular degeneration 11 test
Age related macular degeneration 131 test
Age related macular degeneration 141 test
Age related macular degeneration 151 test
Age related macular degeneration 41 test
Age related macular degeneration 91 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation2 tests
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
ALG1-congenital disorder of glycosylation1 test
ALG2-congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Allan-Herndon-Dudley syndrome1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alstrom syndrome1 test
Alzheimer disease 21 test
Amyloidosis, hereditary systemic 12 tests
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 201 test
Amyotrophic lateral sclerosis type 211 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis, susceptibility to, 242 tests
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Andersen Tawil syndrome2 tests
Anemia, congenital dyserythropoietic, type 1a1 test
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Anemia, sideroblastic, 51 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aplastic anemia1 test
Apparent mineralocorticoid excess1 test
Arrhythmogenic right ventricular dysplasia 51 test
Arterial calcification, generalized, of infancy, 12 tests
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 2B31 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arts syndrome1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 42 tests
Asphyxiating thoracic dystrophy 53 tests
Ataxia-hypogonadism-choroidal dystrophy syndrome1 test
Ataxia-pancytopenia syndrome1 test
Ataxia-telangiectasia syndrome1 test
Atelosteogenesis type II1 test
Atransferrinemia1 test
Atrial fibrillation, familial, 92 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autoimmune interstitial lung disease-arthritis syndrome1 test
Autoimmune lymphoproliferative syndrome type 41 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypocalcemia 12 tests
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 172 tests
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant sideroblastic anemia1 test
Autosomal dominant spastic paraplegia type 91 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive amelia1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive complex spastic paraplegia type 9B1 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 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 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
Autosomal recessive limb-girdle muscular dystrophy type R181 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spastic paraplegia type 781 test
Avascular necrosis of femoral head, primary, 11 test
Avascular necrosis of femoral head, primary, 21 test
Bailey-Bloch congenital myopathy1 test
Baller-Gerold syndrome1 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 201 test
Bardet-biedl syndrome 211 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Bartter disease type 51 test
Basal cell carcinoma, susceptibility to, 71 test
Basal laminar drusen1 test
Beare-Stevenson cutis gyrata syndrome2 tests
Becker muscular dystrophy1 test
Benign familial hematuria1 test
Benign hereditary chorea1 test
Bent bone dysplasia syndrome 12 tests
Bernard Soulier syndrome1 test
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
beta Thalassemia1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome2 tests
Bethlem myopathy 1A1 test
Bethlem myopathy 21 test
Bilateral multicystic dysplastic kidney1 test
Bilateral parasagittal parieto-occipital polymicrogyria1 test
Birt-Hogg-Dube syndrome1 test
Bleeding disorder, platelet-type, 211 test
Blood group, Chido/Rodgers system1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
Bloom syndrome1 test
BNAR syndrome2 tests
Bone marrow failure syndrome 31 test
Bone marrow failure syndrome 41 test
Bone marrow failure syndrome 51 test
Bone mineral density quantitative trait locus 12 tests
Bone mineral density quantitative trait locus 181 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly type A11 test
Brachydactyly type A1D1 test
Brachyrachia (short spine dysplasia)1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain-lung-thyroid syndrome1 test
Branchiooculofacial syndrome1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 31 test
Brody myopathy1 test
BRONCHIECTASIS AND NASAL POLYPOSIS1 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Bronchiectasis with or without elevated sweat chloride 32 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Budd-Chiari syndrome1 test
C1 inhibitor deficiency1 test
C1Q deficiency1 test
Café-au-lait macules with pulmonary stenosis2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome2 tests
Camptomelic dysplasia1 test
Cantu syndrome, KCNJ8 related1 test
Capillary malformation-arteriovenous malformation 11 test
Carcinoma of cervix2 tests
Carcinoma of colon2 tests
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked2 tests
Cardiofaciocutaneous syndrome 21 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Carpal tunnel syndrome2 tests
Cataract 16 multiple types1 test
CBL-related disorder1 test
Cenani-Lenz syndactyly syndrome1 test
Central core myopathy1 test
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1 test
Cerebro-facio-thoracic dysplasia1 test
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cerebroretinal microangiopathy with calcifications and cysts 22 tests
CFHR5 deficiency1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2Q1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease axonal type 2Z1 test
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease dominant intermediate E2 tests
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease recessive intermediate C1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B13 tests
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2R1 test
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
Charcot-Marie-Tooth disease, dominant intermediate G1 test
Charcot-Marie-Tooth disease, type IA1 test
CHARGE syndrome1 test
Charlevoix-Saguenay spastic ataxia1 test
Childhood hypophosphatasia2 tests
Childhood onset GLUT1 deficiency syndrome 21 test
Chitayat syndrome1 test
Chondrocalcinosis 21 test
Chondrodysplasia Blomstrand type1 test
Choroid plexus papilloma1 test
Chromosome 22q11.2 deletion syndrome, distal1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chuvash polycythemia3 tests
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia, primary, 36, X-linked1 test
Ciliary dyskinesia, primary, 371 test
Ciliary dyskinesia, primary, 381 test
Ciliary dyskinesia, primary, 391 test
Ciliary dyskinesia, primary, 401 test
Ciliary dyskinesia, primary, 461 test
Ciliary dyskinesia, primary, 47, and lissencephaly1 test
Ciliary dyskinesia, primary, 48, without situs inversus1 test
Ciliary dyskinesia, primary, 49, without situs inversus1 test
Ciliary dyskinesia, primary, 501 test
Ciliary dyskinesia, primary, 511 test
Ciliary dyskinesia, primary, 521 test
Ciliary dyskinesia, primary, 531 test
Cleidocranial dysostosis1 test
COACH syndrome1 test
Cobalamin C disease2 tests
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Cohen syndrome1 test
Cole-Carpenter syndrome 12 tests
Cole-Carpenter syndrome 22 tests
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal carcinoma3 tests
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined immunodeficiency due to STIM1 deficiency1 test
Combined oxidative phosphorylation defect type 71 test
Complement component 2 deficiency1 test
Complement component 3 deficiency1 test
Complement component 4a deficiency1 test
Complement component 4b deficiency1 test
Complement component 5 deficiency1 test
Complement component 6 deficiency1 test
Complement component 7 deficiency1 test
Complement component 9 deficiency1 test
Complement component C1s deficiency1 test
Complement factor b deficiency1 test
Compton-North congenital myopathy1 test
Cone-rod dystrophy 161 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital anomalies of kidney and urinary tract 11 test
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1 test
Congenital anomaly of kidney and urinary tract1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 31 test
Congenital central hypoventilation1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital defect of folate absorption1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital disorder of glycosylation type 1E1 test
Congenital dyserythropoietic anemia1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B2 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type III1 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 31 test
Congenital generalized lipodystrophy type 41 test
Congenital glucose-galactose malabsorption1 test
Congenital insensitivity to pain-hypohidrosis syndrome1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy due to LMNA mutation3 tests
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 121 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 151 test
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 171 test
Congenital myasthenic syndrome 181 test
Congenital myasthenic syndrome 191 test
Congenital myasthenic syndrome 201 test
Congenital myasthenic syndrome 211 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 71 test
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion1 test
Congenital myopathy with internal nuclei and atypical cores1 test
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital neutropenia1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital prothrombin deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
Constitutional megaloblastic anemia with severe neurologic disease1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1B1 test
Corticosterone 18-monooxygenase deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Cranioectodermal dysplasia 13 tests
Cranioectodermal dysplasia 23 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 43 tests
Craniofrontonasal syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Craniosynostosis 21 test
Craniosynostosis 41 test
Craniosynostosis 5, susceptibility to1 test
Craniosynostosis 61 test
Craniosynostosis and dental anomalies1 test
Cromer blood group system1 test
Crouzon syndrome2 tests
Crouzon syndrome-acanthosis nigricans syndrome2 tests
Cryohydrocytosis1 test
Curry-Hall syndrome1 test
Cutaneous porphyria1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa, autosomal dominant 31 test
Cutis laxa, X-linked1 test
Cyclical neutropenia2 tests
Cystic fibrosis1 test
Cystinuria1 test
Dalmatian hypouricemia1 test
Danon disease1 test
DDX41-related hematologic malignancy predisposition syndrome1 test
de Barsy syndrome1 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness-lymphedema-leukemia syndrome2 tests
Deficiency of bisphosphoglycerate mutase2 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of ferroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Dehydrated hereditary stomatocytosis 21 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Dejerine-Sottas disease1 test
Dent disease type 12 tests
Dent disease type 21 test
Desmin-related myofibrillar myopathy1 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 501 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diamond-Blackfan anemia1 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 121 test
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 171 test
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 191 test
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diamond-Blackfan anemia-like2 tests
Diaphanospondylodysostosis1 test
Diastrophic dysplasia1 test
Dilated cardiomyopathy 1A3 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome3 tests
Distal myopathy with anterior tibial onset1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal myopathy, Tateyama type1 test
DNA ligase IV deficiency1 test
Dominant beta-thalassemia1 test
Donnai-Barrow syndrome1 test
Down syndrome2 tests
DPAGT1-congenital disorder of glycosylation1 test
DPM3-congenital disorder of glycosylation1 test
Drash syndrome1 test
Duane retraction syndrome 3 with or without deafness1 test
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal dominant 13 tests
Dyskeratosis congenita, autosomal dominant 23 tests
Dyskeratosis congenita, autosomal dominant 33 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal recessive 12 tests
Dyskeratosis congenita, autosomal recessive 22 tests
Dyskeratosis congenita, autosomal recessive 32 tests
Dyskeratosis congenita, autosomal recessive 53 tests
Dyskeratosis congenita, autosomal recessive 63 tests
Dyskeratosis congenita, X-linked3 tests
Dystonia 271 test
Early-onset myopathy with fatal cardiomyopathy1 test
EAST syndrome1 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Eculizumab, poor response to1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Eichsfeld type congenital muscular dystrophy1 test
Eiken syndrome1 test
Elevated circulating creatine kinase concentration1 test
Elliptocytosis 11 test
Elliptocytosis 21 test
Elliptocytosis 31 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive3 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Emphysema3 tests
Encephalocraniocutaneous lipomatosis3 tests
Encephalopathy, acute, infection-induced, susceptibility to, 41 test
Endometrial carcinoma1 test
Epidermal nevus2 tests
Epidermolysis bullosa simplex 1C, localized1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Epilepsy, childhood absence, susceptibility to, 61 test
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Epiphyseal dysplasia, multiple, 21 test
Epiphyseal dysplasia, multiple, 31 test
Epiphyseal dysplasia, multiple, 61 test
Erythrocytosis1 test
Erythrocytosis, familial, 32 tests
Erythrocytosis, familial, 42 tests
Erythrocytosis, familial, 52 tests
Erythrocytosis, familial, 62 tests
Erythrocytosis, familial, 71 test
Essential hypertension1 test
Exudative vitreoretinopathy 42 tests
Fabry disease2 tests
Factor H deficiency1 test
Factor I deficiency1 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial Atypical Hemolytic-Uremic Syndrome1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 31 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia1 test
Familial dysfibrinogenemia1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial expansile osteolysis1 test
Familial hyperaldosteronism type III1 test
Familial hyperkalemic periodic paralysis2 tests
Familial hypoalphalipoproteinemia1 test
Familial hypocalciuric hypercalcemia 12 tests
Familial hypokalemia-hypomagnesemia1 test
Familial idiopathic hypercalciuria1 test
Familial infantile myasthenia1 test
Familial juvenile gout1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial medullary thyroid carcinoma2 tests
Familial partial lipodystrophy, Dunnigan type3 tests
Familial pulmonary capillary hemangiomatosis1 test
Familial scaphocephaly syndrome, McGillivray type2 tests
Familial spontaneous pneumothorax1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial type 3 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fanconi anemia1 test
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group D11 test
Fanconi anemia complementation group D21 test
Fanconi anemia complementation group E1 test
Fanconi anemia complementation group F1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group I1 test
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group L1 test
Fanconi anemia complementation group N1 test
Fanconi anemia complementation group O1 test
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group R1 test
Fanconi anemia complementation group T1 test
Fanconi anemia complementation group U1 test
Fanconi anemia complementation group V1 test
Fanconi anemia, complementation group S1 test
Fanconi anemia, complementation group W1 test
Fanconi renotubular syndrome 21 test
Fanconi renotubular syndrome 31 test
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis1 test
Fatal infantile hypertonic myofibrillar myopathy1 test
Fetal akinesia deformation sequence 11 test
Fetal akinesia deformation sequence 21 test
Fetal akinesia deformation sequence 31 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
Fetal hemoglobin quantitative trait locus 11 test
FG syndrome 22 tests
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Finnish congenital nephrotic syndrome1 test
Finnish type amyloidosis1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 52 tests
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 71 test
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 91 test
Fraser syndrome 11 test
Fraser syndrome 21 test
Fraser syndrome 31 test
Frasier syndrome1 test
Freeman-Sheldon syndrome1 test
Frontometaphyseal dysplasia 12 tests
Frontonasal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Galloway-Mowat syndrome 11 test
Gamma-glutamylcysteine synthetase deficiency1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type I1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Genetic interstitial lung disease1 test
Geroderma osteodysplastica1 test
Giant axonal neuropathy 11 test
Gillessen-Kaesbach-Nishimura syndrome1 test
Glanzmann thrombasthenia1 test
Glioma susceptibility 11 test
Glioma susceptibility 31 test
Glomerulopathy with fibronectin deposits 22 tests
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect1 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Gluthathione peroxidase deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VII2 tests
Gnathodiaphyseal dysplasia2 tests
GNE myopathy1 test
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 21 test
Guillain-Barre syndrome, familial1 test
Hajdu-Cheney syndrome2 tests
Hamartoma of hypothalamus2 tests
Hartsfield-Bixler-Demyer syndrome3 tests
Hb SS disease1 test
Hearing loss, autosomal dominant 34, with or without inflammation1 test
Hearing loss, autosomal dominant 371 test
Hearing loss, X-linked 11 test
Hearing loss, X-linked 61 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type3 tests
Heinz body anemia2 tests
Heme oxygenase 1 deficiency1 test
Hemochromatosis type 41 test
Hemoglobin, high altitude adaptation1 test
Hemolytic anemia due to adenylate kinase deficiency1 test
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction1 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic anemia due to glutathione reductase deficiency1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemorrhage, intracerebral, susceptibility to1 test
Hepatocellular carcinoma1 test
Hereditary angioedema type 11 test
Hereditary cancer-predisposing syndrome1 test
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary disease3 tests
Hereditary elliptocytosis1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 231 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 281 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 451 test
Hereditary spastic paraplegia 461 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 531 test
Hereditary spastic paraplegia 541 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 561 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis type 11 test
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 42 tests
Hereditary spherocytosis type 51 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 41 test
Heterotopia, periventricular, X-linked dominant2 tests
Hirschsprung disease, susceptibility to, 11 test
Hirschsprung disease, susceptibility to, 31 test
HNSHA due to aldolase A deficiency1 test
Huntington disease1 test
Huntington disease-like 21 test
Huppke-Brendel syndrome1 test
Hurler syndrome1 test
Hutchinson-Gilford syndrome3 tests
Hydrolethalus syndrome 21 test
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyperaldosteronism, familial, type IV1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hyperparathyroidism 11 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperparathyroidism, transient neonatal1 test
Hyperphosphatasemia with bone disease1 test
Hyperthyroxinemia, dystransthyretinemic2 tests
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 261 test
Hypertrophic cardiomyopathy 91 test
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2 tests
Hyperuricemic nephropathy, familial juvenile type 41 test
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia3 tests
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypokalemic periodic paralysis, type 12 tests
Hypokalemic periodic paralysis, type 22 tests
Hypomagnesemia, seizures, and intellectual disability 11 test
Hypomyelinating leukodystrophy 111 test
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 41 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets, autosomal recessive, 12 tests
Hypophosphatemic rickets, autosomal recessive, 22 tests
Hypophosphatemic rickets, X-linked recessive2 tests
Hypopigmentation-punctate palmoplantar keratoderma syndrome2 tests
Hypoproteinemia, hypercatabolic1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypouricemia, renal, 21 test
Idiopathic Pulmonary Fibrosis2 tests
Imerslund-Grasbeck syndrome1 test
Imerslund-Grasbeck syndrome type 11 test
Imerslund-Grasbeck syndrome type 21 test
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency due to MASP-2 deficiency1 test
Immunodeficiency, common variable, 71 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile cortical hyperostosis1 test
Infantile hypophosphatasia2 tests
Infantile nephronophthisis1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
Interstitial lung disease due to ABCA3 deficiency1 test
Intervertebral disc disorder1 test
Intestinal hypomagnesemia 11 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Iron-refractory iron deficiency anemia1 test
Ischemic stroke1 test
Isolated focal cortical dysplasia type II2 tests
Isolated neonatal sclerosing cholangitis1 test
Jackson-Weiss syndrome3 tests
Joubert syndrome 11 test
Joubert syndrome 102 tests
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 182 tests
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 212 tests
Joubert syndrome 221 test
Joubert syndrome 232 tests
Joubert syndrome 241 test
Joubert syndrome 251 test
Joubert syndrome 261 test
Joubert syndrome 271 test
Joubert syndrome 281 test
Joubert syndrome 31 test
Joubert syndrome 312 tests
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile myelomonocytic leukemia2 tests
Juvenile nephropathic cystinosis1 test
Juvenile primary lateral sclerosis1 test
Kartagener syndrome1 test
Karyomegalic interstitial nephritis1 test
Keratitis fugax hereditaria1 test
Keutel syndrome1 test
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1 test
Kniest dysplasia1 test
KNOPS BLOOD GROUP SYSTEM1 test
Kostmann syndrome1 test
Kufor-Rakeb syndrome1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
Laurence-Moon syndrome1 test
Leber congenital amaurosis 101 test
Legg-Calve-Perthes disease1 test
LEOPARD syndrome 11 test
Lesch-Nyhan syndrome2 tests
Lethal arthrogryposis-anterior horn cell disease syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
Lethal multiple pterygium syndrome1 test
Lethal occipital encephalocele-skeletal dysplasia syndrome1 test
Lethal tight skin contracture syndrome3 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency1 test
Leukocyte adhesion deficiency 11 test
Levy-Hollister syndrome2 tests
Lewy body dementia1 test
Li-Fraumeni syndrome 11 test
Li-Fraumeni syndrome 21 test
Liddle syndrome2 tests
Liddle syndrome 22 tests
Liddle syndrome 32 tests
Limb-girdle muscular dystrophy due to POMK deficiency1 test
Lipoprotein glomerulopathy1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Long QT syndrome 131 test
Long QT syndrome 91 test
Lowe syndrome1 test
Lymphangiomyomatosis2 tests
Lymphatic malformation 31 test
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
Lynch syndrome 81 test
Lysinuric protein intolerance1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Macular degeneration, X-linked atrophic1 test
Majeed syndrome1 test
Malaria, susceptibility to2 tests
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 52 tests
Malignant tumor of prostate1 test
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder2 tests
Mandibuloacral dysplasia2 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy2 tests
Mandibulofacial dysostosis-microcephaly syndrome1 test
Mannose-binding lectin deficiency1 test
Marfan syndrome1 test
Marinesco-Sjögren syndrome1 test
Marshall syndrome1 test
MASA syndrome1 test
MASS syndrome1 test
Mast syndrome1 test
Maturity-onset diabetes of the young type 11 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meacham syndrome1 test
Meckel syndrome 131 test
Meckel syndrome, type 11 test
Meckel syndrome, type 101 test
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 61 test
Meckel syndrome, type 81 test
Meckel syndrome, type 91 test
Medulloblastoma1 test
Megaconial type congenital muscular dystrophy1 test
Megaloblastic anemia, folate-responsive1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
MEGF10-related myopathy1 test
MEGF8-related Carpenter syndrome1 test
Meier-Gorlin syndrome 71 test
Melanoma, cutaneous malignant, susceptibility to, 93 tests
Melnick-Needles syndrome2 tests
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy1 test
Mesothelioma, malignant1 test
Metachondromatosis1 test
Metaphyseal chondrodysplasia, Jansen type1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome1 test
Metatropic dysplasia1 test
Methemoglobinemia, alpha type1 test
METHEMOGLOBINEMIA, BETA TYPE2 tests
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic acidemia with homocystinuria, type cblX1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Mevalonic aciduria1 test
Microcephaly 20, primary, autosomal recessive1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcytic anemia with liver iron overload1 test
Microphthalmia with brain and digit anomalies1 test
Microvascular complications of diabetes, susceptibility to, 11 test
Microvascular complications of diabetes, susceptibility to, 21 test
Microvascular complications of diabetes, susceptibility to, 31 test
Miller syndrome1 test
MIRAGE syndrome1 test
Mirror movements 21 test
Mismatch repair cancer syndrome 21 test
Mismatch repair cancer syndrome 31 test
Mismatch repair cancer syndrome 41 test
Mitochondrial complex 1 deficiency, nuclear type 301 test
Mitochondrial complex I deficiency1 test
Mitochondrial complex IV deficiency, nuclear-type1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 32 tests
Monocytopenia with susceptibility to infections2 tests
Monosomy 7 myelodysplasia and leukemia syndrome 11 test
Monosomy 7 myelodysplasia and leukemia syndrome 21 test
MORM syndrome1 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Muenke syndrome2 tests
Muir-Torré syndrome1 test
Mullerian aplasia and hyperandrogenism1 test
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multicentric osteolysis nodulosis arthropathy spectrum1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple epiphyseal dysplasia, Beighton type1 test
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple myeloma1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multiple system atrophy 1, susceptibility to1 test
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease1 test
Muscular dystrophy, limb-girdle, autosomal dominant 41 test
Muscular dystrophy, limb-girdle, autosomal recessive 231 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81 test
Muscular dystrophy-dystroglycanopathy type B51 test
Muscular dystrophy-dystroglycanopathy type B61 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myasthenic syndrome, congenital, 221 test
Myasthenic syndrome, slow-channel congenital1 test
Myelodysplastic syndrome2 tests
Myeloproliferative neoplasm1 test
MYH7-related skeletal myopathy1 test
Myocardial infarction, susceptibility to1 test
Myoclonic dystonia 111 test
Myoclonus, intractable, neonatal1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 51 test
Myofibrillar myopathy 61 test
Myofibrillar myopathy 71 test
Myofibrillar myopathy 81 test
Myopathy due to calsequestrin and SERCA1 protein overload1 test
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 51 test
Myopathy, congenital, progressive, with scoliosis1 test
Myopathy, distal, 51 test
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, lactic acidosis, and sideroblastic anemia 12 tests
Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, myosin storage, autosomal recessive1 test
Myopathy, proximal, and ophthalmoplegia1 test
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 11 test
Myopathy, tubular aggregate, 21 test
Myosclerosis1 test
Myosin storage myopathy1 test
MYPN-related myopathy1 test
Nail-patella syndrome1 test
Namaqualand hip dysplasia1 test
Nasopharyngeal carcinoma1 test
Nemaline myopathy 101 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nemaline myopathy 91 test
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neonatal severe primary hyperparathyroidism2 tests
Neoplasm of stomach2 tests
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephronophthisis1 test
Nephronophthisis 11 test
Nephronophthisis 111 test
Nephronophthisis 122 tests
Nephronophthisis 133 tests
Nephronophthisis 141 test
Nephronophthisis 151 test
Nephronophthisis 161 test
Nephronophthisis 181 test
Nephronophthisis 191 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis1 test
Nephrotic syndrome 141 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 111 test
Nephrotic syndrome, type 121 test
Nephrotic syndrome, type 131 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1 test
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis-Noonan syndrome2 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neuronopathy, distal hereditary motor, autosomal recessive 51 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2D1 test
Neuronopathy, distal hereditary motor, type 51 test
Neuronopathy, distal hereditary motor, type 5B1 test
Neuronopathy, distal hereditary motor, type 7A1 test
Neuronopathy, distal hereditary motor, type 7B1 test
Neuropathy, congenital hypomyelinating, 21 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A2 tests
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 1D1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant1 test
Neutropenia, severe congenital, 8, autosomal dominant1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C21 test
Nonarteritic anterior ischemic optic neuropathy, susceptibility to1 test
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonpapillary renal cell carcinoma3 tests
Noonan syndrome 11 test
Noonan syndrome 32 tests
Noonan syndrome 61 test
Normophosphatemic familial tumoral calcinosis1 test
NPHP3-related Meckel-like syndrome1 test
Obesity2 tests
Ocular cystinosis1 test
Oculootoradial syndrome1 test
Oculotrichoanal syndrome2 tests
Orofacial cleft 111 test
Orofacial-digital syndrome IV2 tests
Orofaciodigital syndrome 161 test
Orofaciodigital syndrome I2 tests
Orofaciodigital syndrome type 141 test
Orofaciodigital syndrome type 61 test
Oroticaciduria1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteoglophonic dysplasia3 tests
Osteopetrosis with renal tubular acidosis1 test
Osteoporosis with pseudoglioma2 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Osteosarcoma1 test
Oto-palato-digital syndrome, type II2 tests
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Ovarian dysgenesis 61 test
Overhydrated hereditary stomatocytosis1 test
Paget disease of bone 2, early-onset1 test
Paget disease of bone 31 test
Pallister-Hall syndrome2 tests
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 31 test
Pancreatic cancer, susceptibility to, 41 test
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Pancytopenia due to IKZF1 mutations1 test
Pancytopenia-developmental delay syndrome1 test
Paramyotonia congenita of Von Eulenburg2 tests
Parastremmatic dwarfism1 test
Parathyroid carcinoma1 test
Parietal foramina 11 test
Parietal foramina 21 test
Parietal foramina with cleidocranial dysplasia1 test
Parkinson disease, late-onset1 test
Paroxysmal extreme pain disorder1 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Pelizaeus-Merzbacher disease1 test
Periventricular nodular heterotopia 71 test
Perrault syndrome 21 test
Perry syndrome1 test
Persistent fetal circulation syndrome1 test
Pfeiffer syndrome3 tests
Pheochromocytoma2 tests
Phosphate transport defect1 test
Phosphoribosylpyrophosphate synthetase superactivity1 test
Pierson syndrome1 test
Pituitary adenoma 3, multiple types1 test
Plasma fibronectin deficiency2 tests
Plasminogen deficiency, type I1 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 161 test
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Platyspondylic dysplasia, Torrance type1 test
PMM2-congenital disorder of glycosylation2 tests
Poikiloderma with neutropenia1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polycystic liver disease 4 with or without kidney cysts2 tests
Polydactyly, postaxial, type A12 tests
Polysyndactyly 42 tests
Pontocerebellar hypoplasia type 1A1 test
Postmenopausal osteoporosis2 tests
Potassium-aggravated myotonia2 tests
Pregnancy loss, recurrent, susceptibility to, 21 test
Premature ovarian failure 151 test
Premature ovarian failure 171 test
Preterm premature rupture of membranes1 test
Primary CD59 deficiency1 test
Primary ciliary dyskinesia1 test
Primary ciliary dyskinesia 101 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 211 test
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 241 test
Primary ciliary dyskinesia 251 test
Primary ciliary dyskinesia 261 test
Primary ciliary dyskinesia 271 test
Primary ciliary dyskinesia 281 test
Primary ciliary dyskinesia 291 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 301 test
Primary ciliary dyskinesia 321 test
Primary ciliary dyskinesia 331 test
Primary ciliary dyskinesia 341 test
Primary ciliary dyskinesia 351 test
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary erythromelalgia1 test
Primary failure of tooth eruption1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia1 test
Primary myelofibrosis1 test
Primary pulmonary hypertension1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
Progressive bulbar palsy of childhood1 test
Progressive osseous heteroplasia1 test
Progressive scapulohumeroperoneal distal myopathy1 test
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1 test
Properdin deficiency, X-linked1 test
Protein-losing enteropathy1 test
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis2 tests
Protoporphyria, erythropoietic, 11 test
Proximal myopathy with extrapyramidal signs1 test
Pseudo von Willebrand disease1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C2 tests
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive2 tests
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudohypoparathyroidism type I A1 test
Pseudopseudohypoparathyroidism1 test
Pseudoxanthoma elasticum1 test
PULMONARY ALVEOLAR MICROLITHIASIS1 test
Pulmonary alveolar proteinosis1 test
Pulmonary fibrosis2 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 13 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 23 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 33 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 43 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51 test
Pulmonary hypertension, primary, 11 test
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pulmonary venoocclusive disease 11 test
PYCR1-related de Barsy syndrome1 test
Pyropoikilocytosis, hereditary1 test
Pyruvate carboxylase deficiency1 test
Pyruvate kinase deficiency of red cells1 test
RAB23-related Carpenter syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Rapadilino syndrome1 test
RAPH BLOOD GROUP SYSTEM1 test
Recurrent Neisseria infections due to factor D deficiency1 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal dysplasia, cystic, susceptibility to1 test
Renal glycosuria1 test
Renal hypodysplasia1 test
Renal hypodysplasia/aplasia 11 test
Renal hypodysplasia/aplasia 21 test
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal hypomagnesemia 61 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal tubular dysgenesis1 test
Renal-hepatic-pancreatic dysplasia 11 test
Renal-hepatic-pancreatic dysplasia 21 test
Retinal arterial tortuosity1 test
Retinitis pigmentosa 232 tests
Retinitis pigmentosa 31 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 712 tests
Retinitis pigmentosa 741 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 802 tests
Retinitis pigmentosa 812 tests
Retinitis pigmentosa and erythrocytic microcytosis1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Revesz syndrome3 tests
Rh-null, regulator type1 test
RHYNS syndrome1 test
Rippling muscle disease 21 test
Ritscher-Schinzel syndrome 11 test
Robinow-Sorauf syndrome1 test
Rothmund-Thomson syndrome type 21 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Saethre-Chotzen syndrome2 tests
Saldino-Mainzer syndrome2 tests
Salla disease1 test
Sarcotubular myopathy2 tests
Scalp-ear-nipple syndrome1 test
Scapuloperoneal spinal muscular atrophy1 test
Schimke immuno-osseous dysplasia1 test
Schizencephaly1 test
Sclerosteosis 21 test
Sea-blue histiocyte syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Senior-Loken syndrome 71 test
Senior-Loken syndrome 83 tests
SERKAL syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome2 tests
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency1 test
Severe myoclonic epilepsy in infancy1 test
Severe neurodegenerative syndrome with lipodystrophy1 test
Severe X-linked mitochondrial encephalomyopathy1 test
Severe X-linked myotubular myopathy1 test
Sheldon-Hall syndrome1 test
Short QT syndrome type 32 tests
Short-rib thoracic dysplasia 10 with or without polydactyly2 tests
Short-rib thoracic dysplasia 11 with or without polydactyly1 test
Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
Short-rib thoracic dysplasia 14 with polydactyly2 tests
Short-rib thoracic dysplasia 18 with polydactyly2 tests
Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
Short-rib thoracic dysplasia 8 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 11 test
Shwachman-Diamond syndrome 21 test
Sialic acid storage disease, severe infantile type1 test
Sialuria1 test
Sideroblastic anemia 22 tests
Sideroblastic anemia 32 tests
Simpson-Golabi-Behmel syndrome type 11 test
Simpson-Golabi-Behmel syndrome type 22 tests
Singleton-Merten syndrome 11 test
Sinoatrial node dysfunction and deafness1 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Smith-Lemli-Opitz syndrome1 test
Sneddon syndrome1 test
Sodium serum level quantitative trait locus 11 test
Southeast Asian ovalocytosis2 tests
Spastic ataxia 21 test
Spastic paraplegia 52, autosomal recessive1 test
Spasticity-ataxia-gait anomalies syndrome1 test
Spermatogenic failure 181 test
Spermatogenic failure 281 test
Spermatogenic failures 501 test
Spinal muscular atrophy with congenital bone fractures 11 test
Spinal muscular atrophy with lower extremity predominance1 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spondylo-ocular syndrome1 test
Spondyloepimetaphyseal dysplasia, Bieganski type1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, PAPSS2 type1 test
Spondyloepimetaphyseal dysplasia, Strudwick type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia - Sutcliffe type2 tests
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondyloperipheral dysplasia1 test
STAT3-related early-onset multisystem autoimmune disease1 test
Stickler syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stickler syndrome, type I, nonsyndromic ocular1 test
Stiff skin syndrome1 test
STING-associated vasculopathy with onset in infancy1 test
Stormorken syndrome1 test
Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
Stuttering, familial persistent, 11 test
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Surfactant metabolism dysfunction, pulmonary, 41 test
Surfactant metabolism dysfunction, pulmonary, 51 test
Susceptibility to mononeuropathy of the median nerve, mild1 test
Sweeney-Cox syndrome1 test
Syndromic X-linked intellectual disability Siderius type1 test
Systemic lupus erythematosus, susceptibility to, 61 test
Systemic lupus erythematosus, susceptibility to, 91 test
TCF12-related craniosynostosis1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Telomere syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Tetralogy of Fallot1 test
Thalassemia1 test
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thrombocythemia 11 test
Thrombocythemia 21 test
Thrombocythemia 31 test
Thrombocytopenia 11 test
Thrombocytopenia 21 test
Thrombocytopenia 31 test
Thrombocytopenia 41 test
Thrombocytopenia 51 test
Thrombocytopenia 61 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia2 tests
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to thrombin defect1 test
Thyroid cancer, nonmedullary, 11 test
Thyroid cancer, nonmedullary, 21 test
Thyrotoxic periodic paralysis, susceptibility to, 12 tests
Tibial muscular dystrophy1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Townes-Brocks syndrome 11 test
Transcobalamin II deficiency1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1 test
Trigonocephaly 13 tests
Trigonocephaly 22 tests
Triosephosphate isomerase deficiency1 test
Troyer syndrome1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tumor predisposition syndrome 32 tests
Tumoral calcinosis, hyperphosphatemic, familial, 22 tests
Turcot syndrome1 test
TWIST1-related craniosynostosis1 test
Type 2 diabetes mellitus2 tests
Type A2 brachydactyly1 test
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
Tyrosinemia type I1 test
Ullrich congenital muscular dystrophy 1A1 test
Ullrich congenital muscular dystrophy 21 test
Upshaw-Schulman syndrome1 test
Uruguay Faciocardiomusculoskeletal syndrome1 test
Usher syndrome type 3B1 test
Van Buchem disease type 21 test
Vasculitis due to ADA2 deficiency1 test
Ventriculomegaly-cystic kidney disease1 test
Vesicoureteral reflux 21 test
Vesicoureteral reflux 31 test
Vesicoureteral reflux 81 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 1A1 test
Von Hippel-Lindau syndrome2 tests
von Willebrand disease type 11 test
von Willebrand disease type 21 test
von Willebrand disease type 31 test
Wagner syndrome1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
Weill-Marchesani syndrome 2, dominant1 test
Welander distal myopathy1 test
Werner syndrome1 test
Wilms tumor 12 tests
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
Worth disease2 tests
Wrinkly skin syndrome1 test
X-linked Alport syndrome1 test
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked congenital hemolytic anemia1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia2 tests
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria2 tests
X-linked hydrocephalus syndrome1 test
X-linked myopathy with excessive autophagy1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked recessive nephrolithiasis with renal failure2 tests
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia 12 tests
X-linked sideroblastic anemia with ataxia2 tests
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group F1 test
XFE progeroid syndrome1 test
Yunis-Varon syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 21D0692357, Expiration date: 2025-08-07
CAP, Number: 1353017, Expiration date: 2025-06-30

Licenses

MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 557, Effective date: 2018-07-26 Non-expiring
NY - New York State Department of Health NYSDOH, Number: 4253, Effective date: 2024-07-01, Expiration date: 2025-06-30
PA - Pennsylvania Department of Health PADOH, Number: 029028A, Effective date: 2024-08-15, Expiration date: 2025-08-15

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