Genomic Diagnostic Laboratory, Division of Genomic Diagnostics

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, GDL
Children's Hospital of Philadelphia (CHOP)
Department: Pathology & Laboratory Medicine
3615 Civic Center Blvd, Abramson Research Center, 714J
Philadelphia, Pennsylvania, United States 19104
Phone: 267-426-1447 (U.S.A.)
Fax: 215-590-3514 (U.S.A.)
Email: [email protected]
Website: http://www.chop.edu/centers-programs/division-genomic-diagnostics

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GTR Lab ID: 165021, Last updated:2024-09-13

Personnel

Director: Marilyn Li, MD, Lab Director
Director: Nancy Spinner, PhD, Lab Director
Colleen Campbell, MS, CGC, Certified Genetic counselor, CGC, Lab Associate Director
Phone: 267-426-1447
Fax: 215-590-3514
Email: [email protected]
DGD GeneticCounselor, Genetic Counselor
Email: [email protected]

Conditions and tests

655 conditions/phenotypes with 133 tests
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22q11.2 deletion syndrome1 test
46,XX sex reversal 11 test
46,XY sex reversal 11 test
Abetalipoproteinaemia1 test
Acrodysostosis 2 with or without hormone resistance1 test
Acromesomelic dysplasia 32 tests
Action myoclonus-renal failure syndrome1 test
Acute intermittent porphyria1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia2 tests
Alagille syndrome due to a JAG1 point mutation4 tests
Alagille syndrome due to a NOTCH2 point mutation4 tests
alpha Thalassemia3 tests
Alpha-1-antitrypsin deficiency2 tests
Alport syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment3 tests
Anauxetic dysplasia 11 test
Anemia1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 21 test
Aortic valve disorder1 test
Arterial tortuosity syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ataxia-telangiectasia syndrome3 tests
Atrial fibrillation, familial, 72 tests
Auriculocondylar syndrome 21 test
Autoimmune interstitial lung disease-arthritis syndrome2 tests
Autosomal dominant Alport syndrome1 test
Autosomal dominant epilepsy with auditory features1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive nonsyndromic hearing loss 163 tests
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive spinocerebellar ataxia 71 test
B-cell acute lymphoblastic leukemia2 tests
Baller-Gerold syndrome3 tests
BAP1-related tumor predisposition syndrome1 test
Beckwith-Wiedemann syndrome1 test
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
beta Thalassemia4 tests
Bile acid malabsorption, primary, 11 test
Bile acid malabsorption, primary, 21 test
Birt-Hogg-Dube syndrome3 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome3 tests
Bloom syndrome2 tests
Bohring-Opitz syndrome2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Brain glioma1 test
Brain-lung-thyroid syndrome2 tests
Branchiootic syndrome 11 test
Branchiootic syndrome 32 tests
Branchiootorenal syndrome 22 tests
Breast-ovarian cancer, familial, susceptibility to, 13 tests
Breast-ovarian cancer, familial, susceptibility to, 23 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis with or without elevated sweat chloride 11 test
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brooke-Spiegler syndrome2 tests
C syndrome2 tests
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation syndrome1 test
Carcinoma of colon1 test
Carcinoma of pancreas3 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Carney complex, type 12 tests
Carney-Stratakis syndrome1 test
Carpenter syndrome2 tests
CBL-related disorder2 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral folate transport deficiency1 test
Cerebroretinal microangiopathy with calcifications and cysts 12 tests
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
CHARGE syndrome2 tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Chitayat syndrome1 test
Cholestasis of pregnancy1 test
Cholestasis, intrahepatic, of pregnancy, 31 test
Cholestasis, progressive familial intrahepatic, 41 test
Cholestasis, progressive familial intrahepatic, 51 test
Cholestasis, progressive familial intrahepatic, 81 test
Chondrosarcoma1 test
Chromosome 22q11.2 microduplication syndrome1 test
Chylomicron retention disease1 test
Ciliary dyskinesia, primary, 36, X-linked2 tests
Ciliary dyskinesia, primary, 372 tests
Ciliary dyskinesia, primary, 382 tests
Ciliary dyskinesia, primary, 402 tests
Ciliary dyskinesia, primary, 422 tests
Citrullinemia type II1 test
Cleidocranial dysostosis2 tests
Coats plus syndrome1 test
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 271 test
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency2 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital central hypoventilation3 tests
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital diarrhea 61 test
Congenital diarrhea 7 with exudative enteropathy1 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 51 test
Congenital lactase deficiency1 test
Congenital malabsorptive diarrhea 41 test
Congenital microvillous atrophy2 tests
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 181 test
Congenital prothrombin deficiency1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory sodium diarrhea 81 test
Congenital sodium diarrhea1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Costello syndrome1 test
Cowden syndrome 14 tests
Coxopodopatellar syndrome2 tests
Cranioectodermal dysplasia 12 tests
Cranioectodermal dysplasia 22 tests
Cranioectodermal dysplasia 32 tests
Cranioectodermal dysplasia 41 test
Craniofrontonasal syndrome5 tests
Craniosynostosis 21 test
Craniosynostosis 41 test
Craniosynostosis 62 tests
Craniosynostosis 71 test
Creatine transporter deficiency1 test
Crouzon syndrome2 tests
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cystic fibrosis5 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Desmoid disease, hereditary2 tests
Developmental and epileptic encephalopathy 911 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 981 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 31A1 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 341 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 621 test
Developmental and epileptic encephalopathy, 661 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 91 test
Diabetes mellitus, permanent neonatal 32 tests
Diamond-Blackfan anemia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diarrhea 10, protein-losing enteropathy type1 test
Diarrhea 12, with microvillus atrophy1 test
Diarrhea 91 test
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
DiGeorge syndrome1 test
DNA ligase IV deficiency1 test
Drash syndrome1 test
Dubin-Johnson syndrome1 test
DYRK1A-related intellectual disability syndrome1 test
Dyskeratosis congenita3 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant 21 test
Dyskeratosis congenita, autosomal recessive 52 tests
Dyskeratosis congenita, autosomal recessive 62 tests
Dyskeratosis congenita, X-linked3 tests
Early myoclonic encephalopathy1 test
EAST syndrome1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Ehlers-Danlos syndrome, type 42 tests
Elliptocytosis1 test
Ellis-van Creveld syndrome1 test
Epidermolysis bullosa dystrophica1 test
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
Epilepsy1 test
Epilepsy, childhood absence 21 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 81 test
Epilepsy, progressive myoclonic, 1B1 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Episodic ataxia type 11 test
Exercise-induced hyperinsulinism1 test
Exostoses, multiple, type 21 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 23 tests
Familial cancer of breast3 tests
Familial cylindromatosis1 test
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial focal epilepsy with variable foci1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial infantile myoclonic epilepsy1 test
Familial meningioma4 tests
Familial porphyria cutanea tarda1 test
Familial pulmonary capillary hemangiomatosis2 tests
Familial spontaneous pneumothorax1 test
Familial temporal lobe epilepsy 71 test
Fanconi anemia2 tests
Fanconi anemia complementation group A2 tests
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group Q2 tests
Febrile seizures, familial, 81 test
Feingold syndrome1 test
Feingold syndrome type 21 test
FG syndrome 21 test
Follicular thyroid carcinoma1 test
Fragile X syndrome1 test
Frasier syndrome1 test
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Gastrointestinal stromal tumor1 test
Gaucher disease1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 91 test
Gilbert syndrome1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GM3 synthase deficiency1 test
Gorlin syndrome1 test
Greig cephalopolysyndactyly syndrome1 test
Hartsfield-Bixler-Demyer syndrome2 tests
Hearing loss, X-linked 61 test
Hematologic neoplasm6 tests
Hemochromatosis type 11 test
Hemolytic anemia1 test
Hepatic adenomas, familial1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary cryohydrocytosis with reduced stomatin1 test
Hereditary diffuse gastric adenocarcinoma3 tests
Hereditary hemorrhagic telangiectasia1 test
Hereditary leiomyomatosis and renal cell cancer4 tests
Hereditary pancreatitis2 tests
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 22 tests
Hermansky-Pudlak syndrome 42 tests
Heterotopia, periventricular, X-linked dominant2 tests
Hidrotic ectodermal dysplasia syndrome1 test
HNSHA due to aldolase A deficiency1 test
Hypercholanemia, familial1 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperparathyroidism 2 with jaw tumors1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hyperphosphatasia with intellectual disability syndrome 41 test
Hypophosphatasia1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
Infantile nephronophthisis2 tests
Inflammatory bowel disease1 test
Inherited bone marrow failure syndrome2 tests
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 131 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 81 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Interstitial lung disease 22 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Jackson-Weiss syndrome2 tests
Joubert syndrome 101 test
Juvenile polyposis syndrome2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome2 tests
KBG syndrome2 tests
Kostmann syndrome1 test
Kugelberg-Welander disease1 test
Lafora disease1 test
Landau-Kleffner syndrome1 test
Langer mesomelic dysplasia syndrome3 tests
Larsen-like syndrome, B3GAT3 type1 test
Legius syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leri-Weill dyschondrosteosis3 tests
Leukemia, acute lymphoblastic, susceptibility to4 tests
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukemia, acute myeloid, susceptibility to3 tests
Li-Fraumeni syndrome 110 tests
Liddle syndrome 11 test
Liddle syndrome 21 test
Liddle syndrome 31 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 61 test
Lung carcinoma1 test
Lymphoma2 tests
Lymphoproliferative syndrome 12 tests
Lynch syndrome1 test
Lynch syndrome 13 tests
Lynch syndrome 43 tests
Lynch syndrome 53 tests
Lynch syndrome 83 tests
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency1 test
Malignant tumor of urinary bladder1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Marfan syndrome3 tests
McLeod neuroacanthocytosis syndrome1 test
Meester-Loeys syndrome1 test
MEGF8-related Carpenter syndrome2 tests
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, seizures, and developmental delay1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Miller syndrome1 test
Mismatch repair cancer syndrome 13 tests
Mitochondrial disease3 tests
Mitochondrial DNA depletion syndrome1 test
Mitochondrial DNA depletion syndrome 11 test
Mowat-Wilson syndrome1 test
Muenke syndrome2 tests
Muir-Torré syndrome2 tests
Mulibrey nanism syndrome1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple self-healing squamous epithelioma1 test
Myelodysplastic syndrome2 tests
Myhre syndrome1 test
Myoclonic-astatic epilepsy1 test
Nager syndrome1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 35 tests
Neurodegeneration with brain iron accumulation 51 test
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neutropenia1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder3 tests
Nonsyndromic Deafness1 test
Noonan syndrome2 tests
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair1 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Obesity due to prohormone convertase I deficiency1 test
Oculomaxillofacial dysostosis2 tests
Oligodontia-cancer predisposition syndrome1 test
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteootohepatoenteric syndrome2 tests
Oto-palato-digital syndrome, type I1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic triacylglycerol lipase deficiency1 test
Paragangliomas 21 test
Paragangliomas 32 tests
Paragangliomas 52 tests
Parietal foramina with cleidocranial dysplasia1 test
Partington syndrome1 test
PCWH syndrome1 test
Pelger-Huet-like anomaly and episodic fever with abdominal pain1 test
Perlman syndrome1 test
Peutz-Jeghers syndrome4 tests
Pfeiffer syndrome2 tests
Pheochromocytoma2 tests
Phosphate transport defect1 test
Pitt-Hopkins syndrome1 test
Prader-Willi syndrome1 test
Primary ciliary dyskinesia2 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 182 tests
Primary ciliary dyskinesia 192 tests
Primary ciliary dyskinesia 22 tests
Primary ciliary dyskinesia 202 tests
Primary ciliary dyskinesia 212 tests
Primary ciliary dyskinesia 222 tests
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 62 tests
Primary ciliary dyskinesia 72 tests
Primary ciliary dyskinesia 92 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive familial intrahepatic cholestasis1 test
Progressive familial intrahepatic cholestasis type 21 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 71 test
Progressive sclerosing poliodystrophy1 test
Protein-losing enteropathy1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
PTEN hamartoma tumor syndrome4 tests
Pulmonary alveolar proteinosis with hypogammaglobulinemia2 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 23 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 32 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 42 tests
Pulmonary hypertension, primary, 12 tests
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 32 tests
Pulmonary hypertension, primary, 42 tests
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyropoikilocytosis, hereditary1 test
Pyruvate kinase deficiency of red cells1 test
Rajab interstitial lung disease with brain calcifications 12 tests
Renal cell carcinoma1 test
Renal cysts and diabetes syndrome1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
Retinoblastoma1 test
Rett syndrome4 tests
Rett syndrome, congenital variant1 test
Revesz syndrome3 tests
Rhabdoid tumor predisposition syndrome 22 tests
Rhabdomyosarcoma, embryonal, 21 test
Rienhoff syndrome1 test
Roberts-SC phocomelia syndrome1 test
Rubinstein-Taybi syndrome1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saethre-Chotzen syndrome5 tests
Schuurs-Hoeijmakers syndrome1 test
Schwannomatosis 15 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 21 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2 tests
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2 tests
Severe myoclonic epilepsy in infancy1 test
SHOX-related short stature3 tests
Shprintzen-Goldberg syndrome3 tests
Shwachman syndrome2 tests
Shwachman-Diamond syndrome 12 tests
Sickle cell disease and related diseases1 test
Simpson-Golabi-Behmel syndrome type 21 test
Sitosterolemia1 test
SLC35A2-congenital disorder of glycosylation1 test
Solid tumor6 tests
Spermatogenic failure 462 tests
Spherocytosis1 test
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Spinal muscular atrophy-progressive myoclonic epilepsy 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 61 test
Stomatocytosis1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sucrase-isomaltase deficiency1 test
Surfactant metabolism dysfunction, pulmonary, 12 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 42 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Syndromic X-linked intellectual disability Najm type2 tests
T-cell acute lymphoblastic leukemia1 test
TCF12-related craniosynostosis2 tests
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Terminal osseous dysplasia-pigmentary defects syndrome1 test
Thiopurine response10 tests
Thoracic aortic aneurysm1 test
Thrombocytopenia1 test
Thrombocytopenia 11 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Thyroid cancer, nonmedullary, 51 test
Townes-Brocks syndrome 11 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
TWIST1-related craniosynostosis2 tests
Tyrosinemia type I1 test
Unverricht-Lundborg syndrome1 test
Velocardiofacial syndrome1 test
Vesicoureteral reflux 32 tests
Von Hippel-Lindau syndrome5 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Wagner syndrome1 test
Warsaw breakage syndrome1 test
Werdnig-Hoffmann disease1 test
Werner syndrome2 tests
Wilms tumor 11 test
Wiskott-Aldrich syndrome1 test
Wolman disease1 test
X-linked Alport syndrome2 tests
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked Opitz G/BBB syndrome3 tests
X-linked spondyloepimetaphyseal dysplasia1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D1 test
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group G1 test

List of services

Genetic counseling
Custom microarray analysis: Order Code: Chromosomal SNP Microarray (COARY)
DNA extraction: Order Code: DNA extraction (DNAO)
Whole Exome Sequencing: Order Code: Medical exome (EGPRO; EGFAM for family members), comments
Exome tests available include: CHOP medical exome (EGPRO; EGFAM for family members); Exome reanalysis for CHOP medical exomes (WESRE,EGSRE); CHOP medical exome after panel (EGSPR)
RNA extraction: Order Code: RNA extraction (RNAO)
Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: Sequencing known variant testing (SEQKC), comments
Testing for known mitochondrial DNA variants
Confirmation of research findings: Order Code: Sequencing known variant testing (SEQKC)
Cryopreservation: Order Code: Thaw and expansion (CTHAW)
Tissue culture: Order Code: Tissue Culture and Storage (fibroblast) (GROWC)

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: 39D0198678, Expiration date: 2025-02-27
CAP, Number: 1319201, Expiration date: 2026-04-11

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.