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GTR Home > Laboratories > Johns Hopkins Genomics DNA Diagnostic Laboratory

Johns Hopkins Genomics DNA Diagnostic Laboratory

GTR Lab ID: 1049, Last updated:2023-08-31

Personnel

  • Director: Molly Sheridan, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
  • Sumathi Rachamadugu, MS, MSc, CGC, Genetic Counselor
    Phone: 443-927-3089
    Fax: 410-367-3266
    Email: sracham1@jhmi.edu
  • Hannah Shultz-Lutwyche, BS, Genetic Counselor Assistant
    Phone: 410-955-0483
    Fax: 410-367-3266
    Email: hlutwyc1@jhmi.edu

Conditions and tests

  • 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
  • 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
  • Autism, susceptibility to, X-linked 41 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 childhood-onset proximal spinal muscular atrophy without 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 inherited pseudoxanthoma elasticum1 test
  • 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 pseudohypoaldosteronism type 12 tests
  • 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 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 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 association1 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
  • 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
  • Complete trisomy 21 syndrome2 tests
  • 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 21 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
  • 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
  • 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 amyloid neuropathy2 tests
  • 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 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
  • 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
  • Glioma susceptibility 92 tests
  • 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
  • Hyperkalemic periodic paralysis2 tests
  • 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 hyperchlorhidrosis1 test
  • 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
  • Meretoja 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-globin 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 11 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 5A1 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
  • Orotic aciduria1 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
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 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
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudohypoparathyroidism type I A1 test
  • Pseudopseudohypoparathyroidism1 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-polydactyly syndrome1 test
  • 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, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia type 101 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
  • 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

  • CLIAHelp, 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: 2023-07-01, Expiration date: 2024-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 029028A, Effective date: 2023-08-15, Expiration date: 2024-08-15

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.