Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
Cincinnati Children's Hospital Medical Center (CCHMC)
3333 Burnet Ave ML 4006
Cincinnati, Ohio, United States 45229-3039
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Website: https://www.cincinnatichildrens.org/service/g/genetics-genomics-diagnostic-lab
Affiliated with:
- Cincinnati Children's Hospital Medical Center, http://www.cchmc.org/

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GTR Lab ID: 1237, Last updated:2023-07-31

Personnel

Director: Stephanie Balow, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Director: D. Brian Dawson, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Director: Qiaoning Guan, PhD, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Director: Jie Liu, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Director: Jaime Lopes, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Director: Teresa Smolarek, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Director: Yaning Wu, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Director: Wenying Zhang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Lab Administration, Administrator
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Dharti Adhia, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Diana Brightman, PhD, MS, CGC, Genetic Counselor
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Courtney Brown, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Lexi Coyan, MS, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Rachel Doberstein, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Jennifer Glass, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Sayaka Hashimoto, MS, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Jennifer Hopper, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Amanda Rosenberg, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmc.org
Leandra Tolusso, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Email: LabGeneticCounselors@cchmc.org
Elizabeth Ulm, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Emily Wakefield, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: LabGeneticCounselors@cchmc.org
Lori White, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 513-636-4474
Fax: 513-636-4373
Email: labgeneticcounselors@cchmcc.org

Conditions and tests

1500 conditions/phenotypes with 1223 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
3-Methylglutaconic aciduria type 28 tests
3-methylglutaconic aciduria, type VIIB3 tests
46,xx sex reversal 51 test
46,XY sex reversal 91 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
7q11.23 microduplication syndrome1 test
Acampomelic campomelic dysplasia1 test
Acampomelic campomelic dysplasia with autosomal sex reversal1 test
Achondrogenesis type II1 test
Acquired hemoglobin H disease2 tests
Acquired polycythemia vera3 tests
Acral peeling skin syndrome2 tests
Acrocallosal syndrome2 tests
Acrocephalosyndactyly type I1 test
Acrofacial dysostosis Cincinnati type1 test
Acromicric dysplasia1 test
Actin accumulation myopathy1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia2 tests
Acute megakaryoblastic leukemia1 test
Acute myeloid leukemia7 tests
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency4 tests
Adams-Oliver syndrome 53 tests
Adrenoleukodystrophy2 tests
Adult hypophosphatasia1 test
Adult polyglucosan body disease1 test
ADULT syndrome1 test
Agammaglobulinemia 7, autosomal recessive1 test
Age related macular degeneration 21 test
Age related macular degeneration 41 test
Agnathia-otocephaly complex1 test
Alagille syndrome due to a JAG1 point mutation5 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
ALDH18A1-related de Barsy syndrome2 tests
ALG8 congenital disorder of glycosylation2 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency3 tests
Alpha-methylacyl-CoA racemase deficiency1 test
Alstrom syndrome3 tests
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Ambiguous genitalia1 test
Anauxetic dysplasia 11 test
Andersen Tawil syndrome4 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome2 tests
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
aortic root dilation1 test
Aortic valve disease 13 tests
Aortic valve disease 21 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic cardiomyopathy2 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma5 tests
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 103 tests
Arrhythmogenic right ventricular dysplasia 115 tests
Arrhythmogenic right ventricular dysplasia 124 tests
Arrhythmogenic right ventricular dysplasia 132 tests
Arrhythmogenic right ventricular dysplasia 23 tests
Arrhythmogenic right ventricular dysplasia 53 tests
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 95 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, renal dysfunction, and cholestasis 13 tests
Arthrogryposis, renal dysfunction, and cholestasis 23 tests
Ataxia-pancytopenia syndrome1 test
Ataxia-telangiectasia syndrome5 tests
Atelosteogenesis type I1 test
Atelosteogenesis type III1 test
Atrial fibrillation1 test
Atrial fibrillation, familial, 108 tests
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 151 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 72 tests
Atrial fibrillation, familial, 91 test
Atrial septal defect 22 tests
Atrial septal defect 42 tests
Atrial septal defect 52 tests
Atrial septal defect 73 tests
Atrial septal defect 81 test
Atrial septal defect 93 tests
Atrial standstill 11 test
Atrial standstill 21 test
Atrioventricular block1 test
Atrioventricular septal defect 42 tests
Atrioventricular septal defect 53 tests
Atrioventricular septal defect and common atrioventricular junction2 tests
Atrioventricular septal defect, susceptibility to, 22 tests
Atypical hemolytic-uremic syndrome2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly2 tests
Atypical hemolytic-uremic syndrome with C3 anomaly2 tests
Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly2 tests
Auditory neuropathy, autosomal recessive, 11 test
Autism spectrum disorder1 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency3 tests
Autoimmune lymphoproliferative syndrome type 16 tests
Autoimmune lymphoproliferative syndrome type 2A3 tests
Autoimmune lymphoproliferative syndrome type 2B3 tests
Autoimmune lymphoproliferative syndrome type 48 tests
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b3 tests
Autosomal dominant aplasia and myelodysplasia3 tests
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2 tests
Autosomal dominant hypocalcemia 11 test
Autosomal dominant nonsyndromic hearing loss 11 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 114 tests
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 172 tests
Autosomal dominant nonsyndromic hearing loss 224 tests
Autosomal dominant nonsyndromic hearing loss 233 tests
Autosomal dominant nonsyndromic hearing loss 363 tests
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
Autosomal recessive amelia1 test
Autosomal recessive complex spastic paraplegia type 9B2 tests
Autosomal recessive distal renal tubular acidosis1 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 2I2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J5 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive nonsyndromic hearing loss 124 tests
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A4 tests
Autosomal recessive nonsyndromic hearing loss 1A5 tests
Autosomal recessive nonsyndromic hearing loss 1B2 tests
Autosomal recessive nonsyndromic hearing loss 24 tests
Autosomal recessive nonsyndromic hearing loss 234 tests
Autosomal recessive nonsyndromic hearing loss 314 tests
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 47 tests
Autosomal recessive nonsyndromic hearing loss 531 test
Autosomal recessive nonsyndromic hearing loss 63 tests
Autosomal recessive nonsyndromic hearing loss 661 test
Autosomal recessive nonsyndromic hearing loss 73 tests
Autosomal recessive nonsyndromic hearing loss 83 tests
Autosomal recessive nonsyndromic hearing loss 93 tests
Autosomal recessive osteopetrosis 14 tests
Autosomal recessive osteopetrosis 41 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency2 tests
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4 tests
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency4 tests
Avascular necrosis of femoral head, primary, 11 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
B-cell chronic lymphocytic leukemia4 tests
Bannayan-Riley-Ruvalcaba syndrome3 tests
Baraitser-Winter syndrome 12 tests
Baraitser-winter syndrome 21 test
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 22 tests
Bare lymphocyte syndrome type 2, complementation group A2 tests
Bartter disease type 31 test
Bartter disease type 4B1 test
Basal laminar drusen2 tests
Beare-Stevenson cutis gyrata syndrome1 test
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 13 tests
Benign recurrent intrahepatic cholestasis type 24 tests
Bent bone dysplasia syndrome 11 test
Bernard Soulier syndrome3 tests
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
Beta thalassemia intermedia1 test
Beta-thalassemia major1 test
Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Bile acid CoA ligase deficiency and defective amidation1 test
Bile acid malabsorption, primary, 13 tests
Bilirubin, serum level of, quantitative trait locus 11 test
Blau syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
Bleeding disorder, platelet-type, 211 test
Blepharophimosis - intellectual disability syndrome, MKB type1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type3 tests
Bloom syndrome4 tests
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency3 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 34 tests
Bone marrow failure syndrome 43 tests
Bone marrow failure syndrome 52 tests
Boomerang dysplasia1 test
Brachyolmia-amelogenesis imperfecta syndrome2 tests
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain-lung-thyroid syndrome1 test
Branchiootic syndrome 11 test
Branchiootic syndrome 34 tests
Branchiootorenal syndrome 14 tests
Branchiootorenal syndrome 24 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Brittle cornea syndrome 12 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Brown-Vialetto-van Laere syndrome 13 tests
Brown-Vialetto-van Laere syndrome 23 tests
Brugada syndrome2 tests
Brugada syndrome 18 tests
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 81 test
C3 deficiency1 test
Café-au-lait macules with pulmonary stenosis1 test
Camptomelic dysplasia1 test
Candidiasis, familial, 61 test
Capillary malformation-arteriovenous malformation 13 tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1 test
Cardiac arrhythmia2 tests
Cardiac arrhythmia, ankyrin-B-related3 tests
Cardiac defects1 test
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardiofaciocutaneous syndrome 14 tests
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 44 tests
Cardiomyopathy1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis3 tests
Cardiomyopathy, familial hypertrophic 272 tests
Cardiomyopathy, familial restrictive, 13 tests
Cardiomyopathy, familial restrictive, 34 tests
Carnitine acylcarnitine translocase deficiency4 tests
Carnitine palmitoyl transferase 1A deficiency3 tests
Carnitine palmitoyl transferase II deficiency, myopathic form4 tests
Carnitine palmitoyl transferase II deficiency, neonatal form5 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form3 tests
Carnitine palmitoyltransferase II deficiency2 tests
Carotid intimal medial thickness 12 tests
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
Cataract 381 test
Catecholaminergic polymorphic ventricular tachycardia2 tests
Catecholaminergic polymorphic ventricular tachycardia 17 tests
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Catecholaminergic polymorphic ventricular tachycardia 32 tests
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 54 tests
Catel-Manzke syndrome1 test
Caveolinopathy1 test
CBL-related disorder4 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebroretinal microangiopathy with calcifications and cysts 14 tests
Cerebroretinal microangiopathy with calcifications and cysts 23 tests
Cernunnos-XLF deficiency4 tests
CFHR5 deficiency3 tests
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 4G2 tests
Charcot-Marie-Tooth disease type 4K1 test
CHARGE association4 tests
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 22 tests
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1 test
Cholestanol storage disease3 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 32 tests
Cholestasis, progressive familial intrahepatic, 44 tests
Cholestasis, progressive familial intrahepatic, 52 tests
Cholesteryl ester storage disease1 test
Chondrosarcoma1 test
Chorea-acanthocytosis1 test
Chromosome 13q trisomy1 test
Chronic familial neutropenia1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive2 tests
Chronic pancreatitis1 test
chronic recurrent pancreatitis1 test
Chédiak-Higashi syndrome5 tests
Ciliary dyskinesia, primary, 36, X-linked2 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 382 tests
Ciliary dyskinesia, primary, 392 tests
Ciliary dyskinesia, primary, 402 tests
Ciliary dyskinesia, primary, 412 tests
Ciliopathy1 test
Citrullinemia type II3 tests
Classic homocystinuria2 tests
Cleft lip/palate1 test
Cleidocranial dysostosis1 test
CLOVES syndrome1 test
COACH syndrome 21 test
Cobalamin C disease1 test
Coffin-Siris syndrome1 test
Cohen syndrome4 tests
Combined immunodeficiency due to DOCK8 deficiency3 tests
Combined immunodeficiency due to LRBA deficiency3 tests
Combined immunodeficiency due to moesin deficiency2 tests
Combined immunodeficiency due to ORAI1 deficiency3 tests
Combined immunodeficiency due to STIM1 deficiency5 tests
Combined immunodeficiency due to STK4 deficiency5 tests
Combined immunodeficiency due to ZAP70 deficiency1 test
Combined immunodeficiency with skin granulomas4 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 111 test
Combined oxidative phosphorylation defect type 172 tests
Combined oxidative phosphorylation defect type 82 tests
Combined pulmonary fibrosis-emphysema syndrome1 test
Complement component 2 deficiency1 test
Complement component 3 deficiency2 tests
Complement component 5 deficiency1 test
Complement component 7 deficiency1 test
Complement factor b deficiency1 test
Complete trisomy 21 syndrome1 test
Cone-rod dystrophy 31 test
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia3 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 14 tests
Congenital bile acid synthesis defect 24 tests
Congenital bile acid synthesis defect 34 tests
Congenital bile acid synthesis defect 43 tests
Congenital bile acid synthesis defect 53 tests
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly2 tests
Congenital dyserythropoietic anemia1 test
Congenital dyserythropoietic anemia type 43 tests
Congenital dyserythropoietic anemia, type I6 tests
Congenital dyserythropoietic anemia, type II4 tests
Congenital dyserythropoietic anemia, type III3 tests
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, multiple types, 22 tests
Congenital heart defects, multiple types, 42 tests
Congenital heart defects, multiple types, 51 test
Congenital heart defects, multiple types, 61 test
Congenital heart disease2 tests
Congenital malabsorptive diarrhea 42 tests
Congenital microvillous atrophy2 tests
Congenital muscular dystrophy due to LMNA mutation3 tests
Congenital myasthenic syndrome 161 test
Congenital neutropenia2 tests
Congenital neutropenia-myelofibrosis-nephromegaly syndrome4 tests
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Conotruncal anomaly face syndrome2 tests
Conotruncal heart malformations4 tests
Cornelia de Lange syndrome 11 test
Cortical dysplasia-focal epilepsy syndrome1 test
Cortisone reductase deficiency 21 test
Costello syndrome4 tests
Cowden syndrome3 tests
Cowden syndrome 11 test
Cowden syndrome 51 test
Coxopodopatellar syndrome2 tests
Cranioectodermal dysplasia 21 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome3 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Curry-Hall syndrome3 tests
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal dominant 32 tests
Cutis laxa, autosomal recessive, type 1A2 tests
Cutis laxa, autosomal recessive, type 1B2 tests
Cyclical neutropenia3 tests
Cystic fibrosis2 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
Danon disease6 tests
Deafness, congenital heart defects, and posterior embryotoxon1 test
Deafness, digenic, GJB2/GJB61 test
Deafness-lymphedema-leukemia syndrome2 tests
Defect of purinergic receptor p2y G protein-coupled 121 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
Deficiency of malonyl-CoA decarboxylase2 tests
Dehydrated hereditary stomatocytosis 23 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
delta Thalassemia1 test
Desmin-related myofibrillar myopathy6 tests
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diamond-Blackfan anemia7 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 103 tests
Diamond-Blackfan anemia 113 tests
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 161 test
Diamond-Blackfan anemia 172 tests
Diamond-Blackfan anemia 181 test
Diamond-Blackfan anemia 192 tests
Diamond-Blackfan anemia 201 test
Diamond-Blackfan anemia 32 tests
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 53 tests
Diamond-Blackfan anemia 63 tests
Diamond-Blackfan anemia 73 tests
Diamond-Blackfan anemia 83 tests
Diamond-Blackfan anemia 93 tests
Diamond-Blackfan anemia-like1 test
Diaphragmatic hernia 31 test
DiGeorge syndrome1 test
Dilated cardiomyopathy 1A6 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C4 tests
Dilated cardiomyopathy 1CC2 tests
Dilated cardiomyopathy 1D5 tests
Dilated cardiomyopathy 1DD3 tests
Dilated cardiomyopathy 1E8 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G5 tests
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1HH3 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1J2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L3 tests
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1NN4 tests
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P4 tests
Dilated cardiomyopathy 1R5 tests
Dilated cardiomyopathy 1S5 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X3 tests
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A2 tests
Dilated cardiomyopathy 2B3 tests
Dilated cardiomyopathy 3B3 tests
Dilated cardiomyopathy with left ventricular noncompaction1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Disorder due cytochrome p450 CYP2C19 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant4 tests
Distal monosomy 10p2 tests
Distal myopathy with posterior leg and anterior hand involvement5 tests
Distichiasis-lymphedema syndrome1 test
DK1-congenital disorder of glycosylation2 tests
DNA ligase IV deficiency4 tests
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Donnai-Barrow syndrome1 test
Double outlet right ventricle1 test
Drash syndrome1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome3 tests
Dyschromatosis universalis hereditaria 31 test
Dyskeratosis congenita1 test
Dyskeratosis congenita, autosomal dominant 14 tests
Dyskeratosis congenita, autosomal dominant 24 tests
Dyskeratosis congenita, autosomal dominant 33 tests
Dyskeratosis congenita, autosomal dominant 42 tests
Dyskeratosis congenita, autosomal dominant 62 tests
Dyskeratosis congenita, autosomal recessive 13 tests
Dyskeratosis congenita, autosomal recessive 23 tests
Dyskeratosis congenita, autosomal recessive 34 tests
Dyskeratosis congenita, autosomal recessive 54 tests
Dyskeratosis congenita, autosomal recessive 63 tests
Dyskeratosis congenita, X-linked4 tests
Dyslexia, susceptibility to, 11 test
Dystonia 121 test
Dystonia 161 test
Dystonia 92 tests
Early repolarization associated with ventricular fibrillation1 test
Early-onset myopathy with fatal cardiomyopathy5 tests
EAST syndrome3 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant2 tests
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Eculizumab, poor response to2 tests
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
Ehlers-Danlos syndrome, arthrochalasia type4 tests
Ehlers-danlos syndrome, arthrochalasia type, 22 tests
Ehlers-Danlos syndrome, cardiac valvular type3 tests
Ehlers-Danlos syndrome, classic type4 tests
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type2 tests
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 43 tests
Elliptocytosis 14 tests
Elliptocytosis 24 tests
Elliptocytosis 34 tests
Ellis-van Creveld syndrome3 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant4 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy1 test
Encephalopathy due to GLUT1 deficiency4 tests
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
Epidermolysis bullosa16 tests
Epidermolysis bullosa dystrophica3 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex10 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy2 tests
Epidermolysis bullosa simplex 5C, with pyloric atresia3 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss2 tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness3 tests
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex, Ogna type2 tests
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epiphyseal dysplasia, multiple, 21 test
Epiphyseal dysplasia, multiple, 3, with or without myopathy1 test
Erythrocytosis2 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrocytosis, familial, 53 tests
Erythrokeratodermia variabilis et progressiva 31 test
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency1 test
Exostoses, multiple, type 21 test
Exudative vitreoretinopathy 41 test
Fabry disease4 tests
Factor H deficiency2 tests
Factor VII deficiency1 test
FADD-related immunodeficiency2 tests
Familial acute necrotizing encephalopathy1 test
Familial amyloid neuropathy3 tests
Familial apolipoprotein C-II deficiency1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 41 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
Familial erythrocytosis1 test
Familial hemophagocytic lymphohistiocytosis 23 tests
Familial hemophagocytic lymphohistiocytosis 33 tests
Familial hemophagocytic lymphohistiocytosis 43 tests
Familial hemophagocytic lymphohistiocytosis 53 tests
Familial hypercholesterolemia2 tests
Familial hypocalciuric hypercalcemia 11 test
Familial hypokalemia-hypomagnesemia1 test
Familial Mediterranean fever1 test
Familial Mediterranean fever, autosomal dominant1 test
Familial melanoma2 tests
Familial meningioma1 test
Familial partial lipodystrophy, Kobberling type1 test
Familial pulmonary capillary hemangiomatosis2 tests
Familial restrictive cardiomyopathy2 tests
Familial thoracic aortic aneurysm and aortic dissection3 tests
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia3 tests
Fanconi anemia complementation group A5 tests
Fanconi anemia complementation group B5 tests
Fanconi anemia complementation group C5 tests
Fanconi anemia complementation group D13 tests
Fanconi anemia complementation group D25 tests
Fanconi anemia complementation group E5 tests
Fanconi anemia complementation group F5 tests
Fanconi anemia complementation group G5 tests
Fanconi anemia complementation group I5 tests
Fanconi anemia complementation group J5 tests
Fanconi anemia complementation group L5 tests
Fanconi anemia complementation group N5 tests
Fanconi anemia complementation group O5 tests
Fanconi anemia complementation group P5 tests
Fanconi anemia complementation group Q5 tests
Fanconi anemia complementation group R4 tests
Fanconi anemia complementation group T4 tests
Fanconi anemia complementation group U4 tests
Fanconi anemia complementation group V3 tests
Fanconi anemia, complementation group M1 test
Fanconi anemia, complementation group S3 tests
Fanconi anemia, complementation group W3 tests
Fanconi renotubular syndrome 32 tests
Fanconi-Bickel syndrome4 tests
Febrile seizures, familial, 3a1 test
Feingold syndrome type 11 test
Fetal and neonatal alloimmune thrombocytopenia1 test
Fetal growth restriction1 test
Fetal hemoglobin quantitative trait locus 11 test
FG syndrome 11 test
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Floating-Harbor syndrome1 test
Forebrain defects1 test
Fragile X syndrome1 test
Friedreich ataxia 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Fructose-biphosphatase deficiency2 tests
Gallbladder disease 41 test
Gamma-glutamylcysteine synthetase deficiency4 tests
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis4 tests
Gaucher disease1 test
Geleophysic dysplasia 21 test
Geleophysic dysplasia 32 tests
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genitopatellar syndrome3 tests
Ghosal hematodiaphyseal dysplasia1 test
Gilbert syndrome1 test
Gilbert syndrome, susceptibility to1 test
Glanzmann thrombasthenia3 tests
Global developmental delay1 test
Glucocorticoid deficiency 51 test
Glucose-6-phosphate transport defect6 tests
Glutathione synthetase deficiency without 5-oxoprolinuria4 tests
Gluthathione peroxidase deficiency4 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency3 tests
Glycogen storage disease due to muscle beta-enolase deficiency3 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency5 tests
Glycogen storage disease IXa13 tests
Glycogen storage disease IXb3 tests
Glycogen storage disease IXc3 tests
Glycogen storage disease IXd3 tests
Glycogen storage disease type III4 tests
Glycogen storage disease type X3 tests
Glycogen storage disease XV1 test
Glycogen storage disease, type II5 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V3 tests
Glycogen storage disease, type VI3 tests
Glycogen storage disease, type VII6 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency3 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
Granulocytopenia with immunoglobulin abnormality2 tests
Granulomatous disease, chronic, X-linked1 test
Gray platelet syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 25 tests
Griscelli syndrome type 31 test
Growth failure1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Hajdu-Cheney syndrome2 tests
Hearing loss, autosomal dominant 371 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type1 test
Heimler syndrome 11 test
Heimler syndrome 21 test
Helicobacter pylori infection, susceptibility to1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemoglobin Bart hydrops syndrome1 test
Hemoglobin H disease1 test
Hemoglobin, high altitude adaptation1 test
Hemolytic anemia3 tests
Hemolytic anemia due to adenylate kinase deficiency4 tests
Hemolytic anemia due to glucophosphate isomerase deficiency4 tests
Hemolytic anemia due to hexokinase deficiency4 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency4 tests
Hemolytic uremic syndrome, atypical, susceptibility to1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 14 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hepatitis B virus, susceptibility to1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary coproporphyria1 test
Hereditary disease1 test
Hereditary elliptocytosis4 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria4 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
Hereditary non-spherocytic hemolytic anemia2 tests
Hereditary pancreatitis6 tests
Hereditary spastic paraplegia 5A2 tests
Hereditary spastic paraplegia 9A2 tests
Hereditary spherocytosis type 14 tests
Hereditary spherocytosis type 24 tests
Hereditary spherocytosis type 34 tests
Hereditary spherocytosis type 44 tests
Hereditary spherocytosis type 54 tests
Hereditary stomatocytosis2 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 103 tests
Hermansky-Pudlak syndrome 25 tests
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 92 tests
Herpes simplex encephalitis, susceptibility to, 11 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 41 test
Heterotaxy2 tests
Heterotaxy, visceral, 1, X-linked2 tests
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal2 tests
Heterotaxy, visceral, 6, autosomal2 tests
Heterotaxy, visceral, 7, autosomal2 tests
Heterotaxy, visceral, 8, autosomal2 tests
Heterotopia, periventricular, X-linked dominant2 tests
Histiocytic medullary reticulosis7 tests
HNSHA due to aldolase A deficiency6 tests
Holt-Oram syndrome3 tests
HSD10 mitochondrial disease3 tests
Huntington disease-like 21 test
Hutchinson-Gilford syndrome4 tests
Hydrolethalus syndrome 22 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgM syndrome type 14 tests
Hypercalciuric hypercalcemia, familial, type I1 test
Hypercholanemia, familial 18 tests
Hypercholanemia, familial, 21 test
Hypercholesterolemia1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 43 tests
Hyperinsulinism-hyperammonemia syndrome2 tests
Hyperkalemic periodic paralysis1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperlysinemia1 test
Hyperphenylalaninemia due to DNAJC12 deficiency1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy2 tests
Hypertrophic cardiomyopathy 15 tests
Hypertrophic cardiomyopathy 103 tests
Hypertrophic cardiomyopathy 114 tests
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 152 tests
Hypertrophic cardiomyopathy 162 tests
Hypertrophic cardiomyopathy 173 tests
Hypertrophic cardiomyopathy 183 tests
Hypertrophic cardiomyopathy 23 tests
Hypertrophic cardiomyopathy 202 tests
Hypertrophic cardiomyopathy 253 tests
Hypertrophic cardiomyopathy 265 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 43 tests
Hypertrophic cardiomyopathy 63 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 95 tests
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomyelinating leukodystrophy 111 test
Hypoplastic left heart syndrome 12 tests
Hypoplastic left heart syndrome 23 tests
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypothyroidism, congenital, nongoitrous, 52 tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32 tests
Hypotrichosis 22 tests
IFAP syndrome 1, with or without BRESHECK syndrome1 test
Immunodeficiency 10411 tests
Immunodeficiency 142 tests
Immunodeficiency 181 test
Immunodeficiency 18, severe combined immunodeficiency variant2 tests
Immunodeficiency 191 test
Immunodeficiency 231 test
Immunodeficiency 252 tests
Immunodeficiency 27A5 tests
Immunodeficiency 31B1 test
Immunodeficiency 351 test
Immunodeficiency 492 tests
Immunodeficiency 641 test
Immunodeficiency 662 tests
Immunodeficiency 671 test
Immunodeficiency 83, susceptibility to viral infections1 test
Immunodeficiency due to ficolin3 deficiency1 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
Inborn disorder of bile acid synthesis1 test
Inborn error of immunity1 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile cortical hyperostosis2 tests
Infantile GM1 gangliosidosis1 test
Infantile hypophosphatasia1 test
Infantile liver failure1 test
Infantile nephronophthisis3 tests
Inflammatory bowel disease 251 test
Inflammatory bowel disease 281 test
Inherited glutathione synthetase deficiency2 tests
Insomnia1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2 tests
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1 test
Intellectual disability2 tests
Intellectual disability, autosomal recessive 51 test
Intellectual disability-hypotonic facies syndrome, X-linked, 12 tests
Intervertebral disc disease, susceptibility to1 test
Invasive pneumococcal disease, recurrent isolated1 test
Ischemic stroke1 test
Isolated neonatal sclerosing cholangitis1 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 21 test
Johanson-Blizzard syndrome4 tests
Joint laxity, short stature, and myopia1 test
Joubert syndrome 102 tests
Joubert syndrome 181 test
Joubert syndrome 22 tests
Joubert syndrome 201 test
Joubert syndrome 242 tests
Joubert syndrome 282 tests
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa3 tests
Junctional epidermolysis bullosa gravis of Herlitz6 tests
Junctional epidermolysis bullosa with pyloric atresia3 tests
Junctional epidermolysis bullosa, non-Herlitz type9 tests
Juvenile myelomonocytic leukemia2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Kallikrein, decreased urinary activity of1 test
Kartagener syndrome2 tests
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis palmoplantaris striata 22 tests
Keutel syndrome1 test
Kindler syndrome3 tests
Klinefelter syndrome1 test
Kniest dysplasia1 test
Kostmann syndrome2 tests
L-ferritin deficiency1 test
Langer mesomelic dysplasia syndrome1 test
Langereis blood group1 test
Langerhans cell histiocytosis1 test
Larsen syndrome1 test
Larsen-like syndrome, B3GAT3 type1 test
Laryngo-onycho-cutaneous syndrome2 tests
Lateral meningocele syndrome1 test
Lazy leukocyte syndrome1 test
Leaky severe combined immune deficiency1 test
Left ventricular noncompaction3 tests
Left ventricular noncompaction 13 tests
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 82 tests
Legg-Calve-Perthes disease1 test
Legius syndrome3 tests
Leigh syndrome2 tests
LEOPARD syndrome 15 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 33 tests
Leri-Weill dyschondrosteosis1 test
Lethal acantholytic epidermolysis bullosa3 tests
Lethal congenital glycogen storage disease of heart5 tests
Lethal tight skin contracture syndrome2 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukocyte adhesion deficiency 31 test
Leukoencephalopathy, progressive, with ovarian failure1 test
Levy-Hollister syndrome1 test
Lhermitte-Duclos disease2 tests
Li-Fraumeni syndrome 11 test
Limb-mammary syndrome1 test
Lissencephaly due to LIS1 mutation1 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 42 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Long QT syndrome3 tests
Long QT syndrome 13 tests
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 152 tests
Long QT syndrome 22 tests
Long QT syndrome 38 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long qt syndrome 81 test
Long QT syndrome 92 tests
Lucey-Driscoll syndrome1 test
Lumbar disk herniation, susceptibility to1 test
Lung disease, immunodeficiency, and chromosome breakage syndrome;3 tests
Lymphoproliferative syndrome 14 tests
Lymphoproliferative syndrome 23 tests
Lysinuric protein intolerance3 tests
Lysosomal acid lipase deficiency1 test
Macrocephaly-autism syndrome2 tests
Macroglobulinemia, Waldenstrom, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2 tests
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
Macular degeneration, age-related, 31 test
Majeed syndrome4 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy2 tests
Mandibulofacial dysostosis with alopecia1 test
Mandibulofacial dysostosis-microcephaly syndrome2 tests
Marfan syndrome4 tests
Marshall syndrome1 test
MASS syndrome2 tests
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 33 tests
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 82 tests
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome4 tests
Meckel syndrome, type 13 tests
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 62 tests
Meckel syndrome, type 81 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
Meester-Loeys syndrome2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
MEGF8-related Carpenter syndrome2 tests
Melanoma3 tests
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
Menke-Hennekam syndrome 11 test
Metachondromatosis1 test
Metaphyseal chondrodysplasia, McKusick type3 tests
Metaphyseal dysplasia without hypotrichosis1 test
Methemoglobinemia type 21 test
Methemoglobinemia, type I1 test
Methylmalonic acidemia3 tests
Mevalonic aciduria1 test
MHC class I deficiency3 tests
MHC class II deficiency9 tests
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly, normal intelligence and immunodeficiency4 tests
Microcytic anemia1 test
Microphthalmia with brain and digit anomalies1 test
Microphthalmia, isolated, with coloboma 71 test
Microvascular complications of diabetes, susceptibility to, 21 test
Migraine, familial hemiplegic, 31 test
Migraine, resistance to1 test
Miller Dieker syndrome1 test
Miller syndrome1 test
MIRAGE syndrome1 test
Mirror movements 21 test
Mitochondrial complex 1 deficiency, nuclear type 102 tests
Mitochondrial complex I deficiency1 test
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)3 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2 tests
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mitochondrial trifunctional protein deficiency6 tests
Monocytopenia with susceptibility to infections3 tests
MPI-congenital disorder of glycosylation2 tests
MTHFR THERMOLABILE POLYMORPHISM2 tests
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Multiple acyl-CoA dehydrogenase deficiency8 tests
Multiple congenital anomalies1 test
Multiple congenital exostosis1 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple epiphyseal dysplasia, Al-Gazali type2 tests
Multiple gastrointestinal atresias3 tests
Multiple mitochondrial dysfunctions syndrome 12 tests
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B42 tests
Muscular dystrophy-dystroglycanopathy type B51 test
Mycobacterium tuberculosis, susceptibility to1 test
Myelodysplastic syndrome3 tests
MYH7-related skeletal myopathy1 test
MYH9-related disorder2 tests
Myhre syndrome2 tests
Myoclonic dystonia 111 test
Myofibrillar myopathy 23 tests
Myofibrillar myopathy 55 tests
Myofibrillar myopathy 63 tests
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myopathy, centronuclear, 51 test
Myopathy, myofibrillar, 9, with early respiratory failure5 tests
Myopathy, myosin storage, autosomal recessive3 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopathy, tubular aggregate, 12 tests
Myopia 28, autosomal recessive1 test
Myopia 61 test
Myosin storage myopathy2 tests
MYPN-related myopathy1 test
Nager syndrome1 test
Namaqualand hip dysplasia1 test
Naxos disease5 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome3 tests
Neonatal intrahepatic cholestasis due to citrin deficiency3 tests
Neonatal severe primary hyperparathyroidism1 test
Nephroblastoma1 test
Nephronophthisis1 test
Nephronophthisis 12 tests
Nephronophthisis 162 tests
Nephronophthisis 192 tests
Nephronophthisis 32 tests
Nephronophthisis 41 test
Nephropathic cystinosis1 test
Nephrotic syndrome, type 21 test
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome2 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuronal ceroid lipofuscinosis 51 test
Neutropenia, severe congenital, 1, autosomal dominant3 tests
Neutropenia, severe congenital, 2, autosomal dominant4 tests
Neutropenia, severe congenital, 8, autosomal dominant1 test
Neutrophil immunodeficiency syndrome5 tests
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C1, juvenile form1 test
Niemann-Pick disease, type C22 tests
Nonpapillary renal cell carcinoma2 tests
Noonan syndrome2 tests
Noonan syndrome 15 tests
Noonan syndrome 102 tests
Noonan syndrome 22 tests
Noonan syndrome 33 tests
Noonan syndrome 44 tests
Noonan syndrome 55 tests
Noonan syndrome 63 tests
Noonan syndrome 73 tests
Noonan syndrome 83 tests
Noonan syndrome 92 tests
Noonan syndrome-like disorder with loose anagen hair 14 tests
Noonan syndrome-like disorder with loose anagen hair 22 tests
Noonan-like syndrome1 test
NPHP3-related Meckel-like syndrome3 tests
Obesity2 tests
Oculodentodigital dysplasia2 tests
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome2 tests
Oculootoradial syndrome1 test
Odontohypophosphatasia1 test
Olmsted syndrome, X-linked1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Orofacial cleft 111 test
Orofacial cleft 81 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome I2 tests
Orofaciodigital syndrome type 141 test
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III5 tests
Osteogenesis imperfecta with normal sclerae, dominant form5 tests
Osteogenesis imperfecta, perinatal lethal5 tests
Osteopetrosis with renal tubular acidosis1 test
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Pallister-Hall syndrome1 test
Pancreatic agenesis 11 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Pancytopenia due to IKZF1 mutations1 test
Pancytopenia-developmental delay syndrome2 tests
Papillary thyroid carcinoma1 test
Paramyotonia congenita of Von Eulenburg1 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Peeling skin syndrome 15 tests
Pendred syndrome4 tests
Periodic fever-infantile enterocolitis-autoinflammatory syndrome2 tests
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)2 tests
Peroxisome biogenesis disorder 10B1 test
Peroxisome biogenesis disorder 11A (Zellweger)2 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)2 tests
Peroxisome biogenesis disorder 13A (Zellweger)2 tests
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B2 tests
Peroxisome biogenesis disorder 2A (Zellweger)2 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)2 tests
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)2 tests
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)2 tests
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B2 tests
Peroxisome biogenesis disorder 8A (Zellweger)2 tests
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B1 test
Perrault syndrome 11 test
Persistent fetal circulation syndrome1 test
Pfeiffer syndrome1 test
PGM1-congenital disorder of glycosylation2 tests
Pheochromocytoma1 test
Phosphate transport defect1 test
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome3 tests
Pigmentary pallidal degeneration1 test
Pituitary dependent hypercortisolism1 test
Plasminogen deficiency, type I3 tests
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1 test
Platelet disorder, undefined1 test
Platelet-type bleeding disorder 101 test
Platelet-type bleeding disorder 151 test
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 171 test
Platelet-type bleeding disorder 181 test
Platelet-type bleeding disorder 191 test
Platelet-type bleeding disorder 201 test
Platelet-type bleeding disorder 82 tests
Platyspondylic dysplasia, Torrance type1 test
Poikiloderma with neutropenia4 tests
POLG-related disorder1 test
Polycystic kidney disease 24 tests
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 41 test
Polycystic kidney disease 52 tests
Polycystic kidney disease 6 with or without polycystic liver disease2 tests
Polycystic liver disease 13 tests
Polycystic liver disease 22 tests
Polycystic liver disease 3 with or without kidney cysts1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Polydactyly, postaxial, type A11 test
Polyglandular autoimmune syndrome, type 11 test
Polyglucosan body myopathy type 21 test
Polysyndactyly 41 test
Porokeratosis 3, disseminated superficial actinic type1 test
Postmenopausal osteoporosis2 tests
Potassium-aggravated myotonia1 test
PPARG-related familial partial lipodystrophy3 tests
Prader-Willi syndrome2 tests
Predisposition to invasive fungal disease due to CARD9 deficiency1 test
Preeclampsia1 test
Prekallikrein deficiency1 test
Pretibial dystrophic epidermolysis bullosa1 test
Primary CD59 deficiency2 tests
Primary ciliary dyskinesia 102 tests
Primary ciliary dyskinesia 112 tests
Primary ciliary dyskinesia 122 tests
Primary ciliary dyskinesia 132 tests
Primary ciliary dyskinesia 142 tests
Primary ciliary dyskinesia 152 tests
Primary ciliary dyskinesia 162 tests
Primary ciliary dyskinesia 172 tests
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 192 tests
Primary ciliary dyskinesia 22 tests
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 212 tests
Primary ciliary dyskinesia 221 test
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary ciliary dyskinesia 262 tests
Primary ciliary dyskinesia 272 tests
Primary ciliary dyskinesia 282 tests
Primary ciliary dyskinesia 292 tests
Primary ciliary dyskinesia 32 tests
Primary ciliary dyskinesia 302 tests
Primary ciliary dyskinesia 322 tests
Primary ciliary dyskinesia 332 tests
Primary ciliary dyskinesia 342 tests
Primary ciliary dyskinesia 352 tests
Primary ciliary dyskinesia 52 tests
Primary ciliary dyskinesia 62 tests
Primary ciliary dyskinesia 72 tests
Primary ciliary dyskinesia 92 tests
Primary dilated cardiomyopathy9 tests
Primary familial hypertrophic cardiomyopathy6 tests
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 immunodeficiency syndrome due to p14 deficiency4 tests
Primary myelofibrosis3 tests
Primary sclerosing cholangitis2 tests
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive bulbar palsy of childhood1 test
Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
Progressive external ophthalmoplegia2 tests
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis2 tests
Progressive familial intrahepatic cholestasis type 12 tests
Progressive familial intrahepatic cholestasis type 24 tests
Progressive familial intrahepatic cholestasis type 34 tests
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive sclerosing poliodystrophy2 tests
Prolactin-producing pituitary gland adenoma1 test
Properdin deficiency, X-linked1 test
Propionic acidemia2 tests
Prostate cancer, hereditary, 21 test
Protein-losing enteropathy1 test
Proximal myopathy with extrapyramidal signs1 test
Pseudo von Willebrand disease1 test
Pulmonary arterial hypertension1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
Pulmonary fibrosis-emphysema2 tests
Pulmonary hypertension, primary, 12 tests
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pulmonary venoocclusive disease 12 tests
Purine-nucleoside phosphorylase deficiency3 tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyogenic bacterial infections due to MyD88 deficiency1 test
Pyropoikilocytosis, hereditary2 tests
Pyruvate carboxylase deficiency2 tests
Pyruvate kinase deficiency of red cells4 tests
Pyruvate kinase hyperactivity2 tests
Radial aplasia-thrombocytopenia syndrome3 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21 test
RASGRP1 deficiency1 test
Recessive dystrophic epidermolysis bullosa1 test
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2 tests
Recurrent Neisseria infections due to factor D deficiency3 tests
Reduced generation of multiple motile cilia (RGMC)1 test
Renal carnitine transport defect4 tests
Renal cysts and diabetes syndrome2 tests
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renal-hepatic-pancreatic dysplasia 12 tests
Renal-hepatic-pancreatic dysplasia 22 tests
Renpenning syndrome2 tests
Reticular dysgenesis5 tests
Retinal arterial tortuosity1 test
Retinal dystrophy with leukodystrophy1 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 232 tests
Retinitis pigmentosa 394 tests
Retinitis pigmentosa 614 tests
Retinitis pigmentosa 742 tests
Retinoblastoma1 test
Rett syndrome2 tests
Revesz syndrome1 test
Rh-null, regulator type4 tests
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 51 test
RIDDLE syndrome2 tests
Rienhoff syndrome1 test
Right atrial isomerism1 test
Robinow-Sorauf syndrome1 test
Rubinstein-Taybi syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations2 tests
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saethre-Chotzen syndrome2 tests
Schimke immuno-osseous dysplasia1 test
Schuurs-Hoeijmakers syndrome1 test
Schwannomatosis 12 tests
SCOTT SYNDROME1 test
Seborrheic keratosis1 test
Seckel syndrome 13 tests
Sengers syndrome2 tests
Senior-Loken syndrome 11 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Severe combined immunodeficiency disease3 tests
Severe combined immunodeficiency due to CD70 deficiency1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe combined immunodeficiency due to CTPS1 deficiency2 tests
Severe combined immunodeficiency due to DCLRE1C deficiency1 test
Severe combined immunodeficiency due to DNA-PKcs deficiency3 tests
Severe combined immunodeficiency due to LAT deficiency2 tests
Severe combined immunodeficiency due to LCK deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
Severe congenital neutropenia2 tests
Severe early-childhood-onset retinal dystrophy1 test
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Short QT syndrome1 test
Short QT syndrome type 11 test
Short QT syndrome type 23 tests
Short QT syndrome type 31 test
SHORT syndrome1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
SHOX-related short stature1 test
Shprintzen-Goldberg syndrome2 tests
Shwachman syndrome1 test
Shwachman-Diamond syndrome 15 tests
Shwachman-Diamond syndrome 22 tests
Sick sinus syndrome 2, autosomal dominant2 tests
Sideroblastic anemia 22 tests
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome type 22 tests
Sitosterolemia7 tests
Smith-Lemli-Opitz syndrome2 tests
Smith-Magenis syndrome3 tests
Sneddon syndrome1 test
Somatotroph adenoma1 test
Sotos syndrome3 tests
Southeast Asian ovalocytosis1 test
Specific granule deficiency 22 tests
Spermatogenic failure 182 tests
Spermatogenic failure 272 tests
Spermatogenic failure 461 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia type 271 test
Split hand-foot malformation 41 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondyloepimetaphyseal dysplasia, Strudwick type1 test
Spondyloepiphyseal dysplasia congenita1 test
Spondyloepiphyseal dysplasia with metatarsal shortening1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondyloperipheral dysplasia1 test
STAT3-related early-onset multisystem autoimmune disease1 test
Sterol carrier protein 2 deficiency2 tests
Stickler syndrome1 test
Stickler syndrome type 13 tests
Stickler syndrome type 21 test
Stickler syndrome, IIa 61 test
Stickler syndrome, type 41 test
Stickler syndrome, type I, nonsyndromic ocular1 test
Stiff skin syndrome1 test
STING-associated vasculopathy with onset in infancy1 test
Storage pool disease of platelets1 test
Stormorken syndrome1 test
Stromme syndrome2 tests
Succinyl-CoA acetoacetate transferase deficiency2 tests
Sucrase-isomaltase deficiency1 test
SUDDEN INFANT DEATH SYNDROME1 test
Supravalvar aortic stenosis2 tests
Sweeney-Cox syndrome1 test
Syndactyly type 31 test
Syndromic X-linked intellectual disability Lubs type1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency3 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
Tacrolimus response1 test
TARP syndrome1 test
Tatton-Brown-Rahman overgrowth syndrome1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Testicular anomalies with or without congenital heart disease1 test
Tetralogy of Fallot10 tests
Thalassemia minor1 test
Thoracic aortic aneurysm2 tests
Thrombocythemia 14 tests
Thrombocythemia 21 test
Thrombocythemia 31 test
Thrombocytopenia1 test
Thrombocytopenia 12 tests
Thrombocytopenia 22 tests
Thrombocytopenia 31 test
Thrombocytopenia 41 test
Thrombocytopenia 52 tests
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia3 tests
Thrombomodulin-related bleeding disorder2 tests
Thrombophilia1 test
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein C deficiency, autosomal recessive1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thrombophilia due to thrombin defect1 test
Thrombophilia, X-linked, due to factor 9 defect1 test
Thrombotic thrombocytopenic purpura1 test
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Tibial muscular dystrophy5 tests
Timothy syndrome2 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tooth agenesis, selective, X-linked, 11 test
Transcobalamin II deficiency4 tests
Transient bullous dermolysis of the newborn1 test
Transposition of the great arteries1 test
Transposition of the great arteries, dextro-looped3 tests
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Treacher Collins syndrome 41 test
Treacher Collins Syndrome and Mandibulofacial Dysostosis1 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Triosephosphate isomerase deficiency4 tests
Triploidy1 test
Trisomy 181 test
Tropical pancreatitis1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Turner syndrome1 test
TWIST1-related craniosynostosis1 test
Type 1 diabetes mellitus 202 tests
Type 2 diabetes mellitus1 test
Type 3 autoimmune lymphoproliferative syndrome1 test
Tyrosinemia type I2 tests
Ulnar-mammary syndrome1 test
Upshaw-Schulman syndrome2 tests
Uruguay Faciocardiomusculoskeletal syndrome2 tests
Usher syndrome type 15 tests
Usher syndrome type 1B2 tests
Usher syndrome type 1C4 tests
Usher syndrome type 1D4 tests
Usher syndrome type 1F5 tests
Usher syndrome type 1G4 tests
Usher syndrome type 2A4 tests
Usher syndrome type 2C3 tests
Usher syndrome type 2D4 tests
Usher syndrome type 34 tests
Usher syndrome, type IIC, GPR98/PDZD7 digenic2 tests
VACTERL association, X-linked, with or without hydrocephalus2 tests
VACTERL with hydrocephalus2 tests
Van Maldergem syndrome 21 test
Variegate porphyria1 test
Vasculitis due to ADA2 deficiency4 tests
Velocardiofacial syndrome5 tests
Ventricular fibrillation, paroxysmal familial, type 11 test
Ventricular septal defect 12 tests
Ventricular septal defect 21 test
Ventricular septal defect 32 tests
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vesicoureteral reflux 32 tests
Vesicoureteral reflux 82 tests
Vici syndrome3 tests
Visceral heterotaxy3 tests
Visceral myopathy 12 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 13 tests
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Von Hippel-Lindau syndrome2 tests
Wagner syndrome1 test
Warfarin response3 tests
Warts, hypogammaglobulinemia, infections, and myelokathexis4 tests
WDR1 deficiency2 tests
Weill-Marchesani syndrome 12 tests
Weill-Marchesani syndrome 2, dominant2 tests
WHIM syndrome 21 test
Williams syndrome1 test
Wilson disease3 tests
Wiskott-Aldrich syndrome4 tests
Wiskott-Aldrich syndrome 24 tests
Wolcott-Rallison dysplasia3 tests
Wolff-Parkinson-White pattern3 tests
Woolly hair-skin fragility syndrome2 tests
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked congenital hemolytic anemia1 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked Emery-Dreifuss muscular dystrophy4 tests
X-linked erythropoietic protoporphyria2 tests
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia4 tests
X-linked intellectual disability with marfanoid habitus2 tests
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency3 tests
X-linked lymphoproliferative disease due to XIAP deficiency3 tests
X-linked mixed hearing loss with perilymphatic gusher3 tests
X-linked myopathy with postural muscle atrophy2 tests
X-linked scapuloperoneal muscular dystrophy1 test
X-linked severe combined immunodeficiency3 tests
X-linked severe congenital neutropenia2 tests
X-linked sideroblastic anemia 12 tests
X-linked sideroblastic anemia with ataxia4 tests
X-linked spondyloepimetaphyseal dysplasia1 test
ZAP70-Related Severe Combined Immunodeficiency2 tests
Zinc deficiency, transient neonatal1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Prenatal testing
Custom Sequence Analysis, comments
For more information, visit: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/default/
Carrier testing
Identity Testing
Insurance billing
Maternal cell contamination study (MCC)
Mutation Confirmation
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing, comments
For more information, visit: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/whole-exome-sequencing/default/

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: 36D0656333, Expiration date: 2025-01-02
CAP, Number: 1667801, Expiration date: 2025-04-12

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.