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GTR Home > Laboratories > Genomic Diagnostic Laboratory, Division of Genomic Diagnostics

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics

GTR Lab ID: 165021, Last updated:2023-02-08

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: campbellcd@chop.edu
  • DGD GeneticCounselor, Genetic Counselor
    Email: DGDGeneticCounselor@chop.edu

Conditions and tests

  • 15q11q13 microduplication syndrome1 test
  • 22q partial monosomy1 test
  • 2q24 microdeletion syndrome1 test
  • 3p- syndrome1 test
  • 46,XX sex reversal 11 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 46,XY sex reversal 11 test
  • 8p23.1 microdeletion syndrome1 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
  • Autism spectrum disorder1 test
  • Autism, susceptibility to, X-linked 41 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 1A1 test
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Autosomal recessive spinocerebellar ataxia 71 test
  • B-cell acute lymphoblastic leukemia1 test
  • 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 Thalassemia3 tests
  • Bile acid malabsorption, primary, 11 test
  • Bile acid malabsorption, primary, 21 test
  • 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 association3 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 1, deletion q21 q251 test
  • Chromosome 1, duplication 1p21 p321 test
  • Chromosome 1, monosomy 1p22 p131 test
  • Chromosome 1, monosomy 1p31 p221 test
  • Chromosome 1, monosomy 1p321 test
  • Chromosome 1, monosomy 1p34 p321 test
  • Chromosome 1, monosomy 1q25 q321 test
  • Chromosome 1, monosomy 1q32 q421 test
  • Chromosome 1, trisomy 1q32 qter1 test
  • Chromosome 1, trisomy 1q42-qter1 test
  • Chromosome 1, uniparental disomy 1q12 q211 test
  • Chromosome 10, trisomy 10pter p131 test
  • Chromosome 10q23 deletion syndrome1 test
  • Chromosome 11, deletion 11p1 test
  • Chromosome 11, partial trisomy 11q1 test
  • Chromosome 11;14 translocation1 test
  • Chromosome 11p, partial deletion1 test
  • Chromosome 11q trisomy1 test
  • Chromosome 12p deletion1 test
  • Chromosome 13, partial monosomy 13q1 test
  • Chromosome 13p duplication1 test
  • Chromosome 13q-mosaicism1 test
  • Chromosome 13q14 deletion syndrome1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14 trisomy1 test
  • Chromosome 14, deletion 14q, partial duplication 14p1 test
  • Chromosome 14;16 translocation1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15, distal trisomy 15q1 test
  • Chromosome 15q duplication mosaicism1 test
  • Chromosome 15q, partial deletion1 test
  • Chromosome 15q, tetrasomy1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 15q11.2 duplication syndrome1 test
  • Chromosome 15q25 deletion syndrome1 test
  • Chromosome 15q26-qter deletion syndrome1 test
  • Chromosome 16 inversion, 0.45-Mb1 test
  • Chromosome 16 trisomy1 test
  • Chromosome 16, uniparental disomy1 test
  • Chromosome 16p11.2 duplication syndrome1 test
  • Chromosome 16p12.1 deletion syndrome, 520kb1 test
  • Chromosome 16p12.2-p11.2 deletion syndrome1 test
  • Chromosome 16p13.3 duplication syndrome1 test
  • Chromosome 16q22 deletion syndrome1 test
  • Chromosome 17, deletion 17q23 q241 test
  • Chromosome 17, duplication1 test
  • Chromosome 17p deletion1 test
  • Chromosome 17p13.1 deletion syndrome1 test
  • Chromosome 17p13.3 duplication syndrome1 test
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
  • Chromosome 17q12 deletion syndrome1 test
  • Chromosome 17q12 duplication syndrome1 test
  • Chromosome 17q21.31 duplication syndrome1 test
  • Chromosome 17q23.1-q23.2 deletion syndrome1 test
  • Chromosome 18 mosaic monosomy1 test
  • Chromosome 18 pericentric inversion1 test
  • Chromosome 19 ring syndrome1 test
  • Chromosome 19p13.13 deletion syndrome1 test
  • Chromosome 19q13.11 deletion syndrome, distal1 test
  • Chromosome 1p32-p31 deletion syndrome1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q deletion1 test
  • Chromosome 1q, duplication 1q12 q211 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • CHROMOSOME 1qter DELETION SYNDROME1 test
  • Chromosome 2, duplication(2)(p13)(p21)1 test
  • Chromosome 2, monosomy 2p221 test
  • Chromosome 2, monosomy 2pter p241 test
  • Chromosome 2, trisomy 2pter p241 test
  • Chromosome 2, trisomy 2q371 test
  • Chromosome 21, monosomy 21q221 test
  • Chromosome 21, tetrasomy 21q1 test
  • Chromosome 22, monosome mosaic1 test
  • Chromosome 22, trisomy q11 q131 test
  • Chromosome 22q11.2 deletion syndrome, distal1 test
  • Chromosome 22q13 duplication syndrome1 test
  • Chromosome 2p12-p11.2 deletion syndrome1 test
  • Chromosome 2q23.1 deletion syndrome1 test
  • Chromosome 2q23.1 duplication syndrome1 test
  • Chromosome 2q31.1 duplication syndrome1 test
  • Chromosome 2q31.2 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chromosome 3 duplication syndrome1 test
  • Chromosome 3, monosomy 3p14 p111 test
  • Chromosome 3, monosomy 3q131 test
  • Chromosome 3, monosomy 3q21 231 test
  • Chromosome 3, monosomy 3q271 test
  • Chromosome 3, trisomy 3p251 test
  • Chromosome 3, trisomy 3q13 2 q251 test
  • Chromosome 3q13.31 deletion syndrome1 test
  • Chromosome 3q29 microduplication syndrome1 test
  • Chromosome 4 short arm deletion1 test
  • Chromosome 4, monosomy 4p14 p161 test
  • Chromosome 4, monosomy 4q321 test
  • Chromosome 4, monosomy distal 4q1 test
  • Chromosome 4, partial trisomy distal 4q1 test
  • Chromosome 4, Trisomy 4p1 test
  • Chromosome 4, trisomy 4q211 test
  • Chromosome 4, trisomy 4q25 qter1 test
  • Chromosome 4q21 deletion syndrome1 test
  • Chromosome 4Q32.1-q32.2 triplication syndrome1 test
  • Chromosome 5, trisomy 5pter p13 31 test
  • Chromosome 5, uniparental disomy1 test
  • Chromosome 5p13 duplication syndrome1 test
  • Chromosome 5q12 deletion syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chromosome 6, deletion 6q13 q151 test
  • Chromosome 6, monosomy 6p231 test
  • Chromosome 6, monosomy 6q11 test
  • Chromosome 6, monosomy 6q21 test
  • Chromosome 6pter-p24 deletion syndrome1 test
  • Chromosome 6q24-q25 deletion syndrome1 test
  • Chromosome 7, monosomy1 test
  • Chromosome 7, monosomy 7q21 test
  • Chromosome 7, monosomy 7q211 test
  • Chromosome 7, monosomy 7q31 test
  • Chromosome 7, partial monosomy 7p1 test
  • Chromosome 7, trisomy 7p13 p12 21 test
  • Chromosome 8, monosomy 8p1 test
  • Chromosome 8, monosomy 8p21 test
  • Chromosome 8, partial trisomy1 test
  • Chromosome 8-derived supernumerary ring/marker1 test
  • Chromosome 8q21.11 deletion syndrome1 test
  • Chromosome 9 translocation1 test
  • Chromosome 9, deletion 9q21.33q22.321 test
  • Chromosome 9, duplication 9q211 test
  • Chromosome 9, trisomy 9p1 test
  • Chromosome 9, trisomy 9q1 test
  • Chromosome 9, trisomy 9q321 test
  • Chromosome 9p deletion syndrome1 test
  • Chromosome 9q duplication1 test
  • Chromosome Xp21 deletion syndrome1 test
  • Chromosomes 1 and 2, monosomy 2q duplication 1p1 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 12 tests
  • 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 hypoventilation2 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
  • Deletion of long arm of chromosome 131 test
  • Deletion of long arm of chromosome 181 test
  • Deletion of short arm of chromosome 181 test
  • Desmoid disease, hereditary2 tests
  • 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, 311 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
  • Distal 10q deletion syndrome1 test
  • Distal 16p11.2 microdeletion syndrome1 test
  • Distal 7q11.23 microdeletion syndrome1 test
  • Distal monosomy 9p1 test
  • Distal trisomy 10q1 test
  • Distal trisomy 14q1 test
  • Distal trisomy 6q1 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 type, 21 test
  • Ehlers-Danlos syndrome, arthrochalasis type1 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
  • 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
  • Epileptic encephalopathy, infantile or early childhood, 11 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 clubfoot due to 17q23.1q23.2 microduplication1 test
  • 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 anemia1 test
  • 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 neoplasm5 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
  • 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
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 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 221 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
  • Kleefstra syndrome 11 test
  • 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 17 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 rhabdoid tumor, somatic1 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
  • Mitochondrial disease3 tests
  • Mitochondrial DNA depletion syndrome1 test
  • Mitochondrial DNA depletion syndrome 11 test
  • Monosomy 211 test
  • Mosaic trisomy 101 test
  • Mosaic trisomy 141 test
  • Mosaic trisomy 151 test
  • Mosaic trisomy 211 test
  • Mosaic trisomy 221 test
  • Mosaic trisomy 71 test
  • Mosaic trisomy 81 test
  • Mosaic trisomy 91 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
  • Mowat-Wilson syndrome1 test
  • Muenke syndrome2 tests
  • Muir-TorrĂ© 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 41 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b2 tests
  • Multiple fibrofolliculomas3 tests
  • Multiple self-healing squamous epithelioma1 test
  • Myelodysplastic syndrome2 tests
  • Myeloid neoplasm associated with FGFR1 rearrangement1 test
  • Myhre syndrome1 test
  • Myoclonic-atonic epilepsy1 test
  • Nager syndrome1 test
  • Neonatal acute respiratory distress due to SP-B deficiency2 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neuroblastoma, susceptibility to, 36 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, recessive 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
  • Partial deletion of the long arm of chromosome 111 test
  • Partial deletion of the long arm of chromosome 21 test
  • Partial deletion of the long arm of chromosome 41 test
  • Partial deletion of the long arm of chromosome 61 test
  • Partial deletion of the long arm of chromosome 81 test
  • Partial deletion of the short arm of chromosome 11 test
  • Partial deletion of the short arm of chromosome 101 test
  • Partial duplication of the long arm of chromosome 121 test
  • Partial duplication of the long arm of chromosome 151 test
  • Partial duplication of the long arm of chromosome 171 test
  • Partial duplication of the long arm of chromosome 191 test
  • Partial duplication of the long arm of chromosome 21 test
  • Partial duplication of the long arm of chromosome 31 test
  • Partial duplication of the long arm of chromosome 41 test
  • Partial duplication of the long arm of chromosome 71 test
  • Partial duplication of the long arm of chromosome X1 test
  • Partial duplication of the short arm of chromosome 161 test
  • Partial duplication of the short arm of chromosome 21 test
  • Partial duplication of the short arm of chromosome 61 test
  • Partial duplication of the short arm of chromosome 71 test
  • Partial monosomy of the long arm of chromosome 101 test
  • Partial monosomy of the short arm of chromosome 201 test
  • Partial trisomy of the long arm of chromosome 161 test
  • Partial trisomy of the long arm of chromosome 181 test
  • Partial trisomy of the long arm of chromosome 51 test
  • Partington syndrome1 test
  • Paternal uniparental disomy of chromosome 141 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
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome2 tests
  • Pitt-Hopkins syndrome1 test
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome1 test
  • Prader-Willi-like syndrome associated with chromosome 61 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
  • 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 11 test
  • Rhabdoid tumor predisposition syndrome 22 tests
  • Rhabdomyosarcoma, embryonal, 21 test
  • Rienhoff syndrome1 test
  • Ring chromosome 11 test
  • Ring chromosome 101 test
  • Ring chromosome 121 test
  • Ring chromosome 131 test
  • Ring chromosome 141 test
  • Ring chromosome 151 test
  • Ring chromosome 181 test
  • Ring chromosome 191 test
  • Ring chromosome 20 syndrome1 test
  • Ring chromosome 211 test
  • Ring chromosome 221 test
  • Ring chromosome 61 test
  • Ring chromosome 71 test
  • Ring chromosome 91 test
  • Roberts-SC phocomelia syndrome1 test
  • Rubinstein-Taybi syndrome1 test
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
  • Saethre-Chotzen syndrome3 tests
  • Schuurs-Hoeijmakers syndrome1 test
  • Schwannomatosis 12 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 motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
  • 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
  • Silver-Russell syndrome 11 test
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Sitosterolemia1 test
  • SLC35A2-congenital disorder of glycosylation1 test
  • Solid tumor5 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, IIa 61 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • Stomatocytosis1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • 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
  • Tetrasomy 18p1 test
  • Tetrasomy 9p1 test
  • 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
  • Trisomy 10p1 test
  • Trisomy 12p1 test
  • Trisomy 17p1 test
  • Trisomy 20p1 test
  • Trisomy 8p1 test
  • Trisomy 8q1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Turcot syndrome3 tests
  • TWIST1-related craniosynostosis2 tests
  • Tyrosinemia type I1 test
  • Uniparental disomy of 111 test
  • Uniparental disomy of 71 test
  • Uniparental disomy of chromosome 61 test
  • Unverricht-Lundborg syndrome1 test
  • Vesicoureteral reflux 32 tests
  • Von Hippel-Lindau syndrome6 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 chromosome, duplication Xq13 1 q21 11 test
  • X chromosome, monosomy Xq281 test
  • X chromosome, trisomy Xp31 test
  • X chromosome, trisomy Xpter Xq131 test
  • X chromosome, trisomy Xq251 test
  • X-linked acrogigantism due to Xq26 microduplication1 test
  • X-linked Alport syndrome2 tests
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability-retinitis pigmentosa syndrome1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked Opitz G/BBB syndrome4 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
  • Xq27.3q28 duplication syndrome1 test
  • Y chromosome deletions1 test
  • Y chromosome-related disorders1 test

List of services

  • Genetic counseling
  • DNA extraction: Order Code: DNA extraction (DNAO)
  • Tissue culture: Order Code: Grow and store
  • Whole Exome Sequencing: Order Code: Medical exome (EGPRO; EGFAM for family members), comments
  • RNA extraction: Order Code: RNA extraction (RNAO)
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: Sequencing known variant testing (SEQKC), comments
  • Confirmation of research findings: Order Code: Sequencing known variant testing (SEQKC)
  • Cryopreservation: Order Code: Thaw and expansion

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 39D0198678, Expiration date: 2023-02-27
  • CAP, Number: 1319201, Expiration date: 2024-04-12

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.