GTR Home > Laboratories > Molecular Genetics Laboratory

Molecular Genetics Laboratory

GTR Lab ID: 165021
Last updated: 2014-08-20

General information

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Personnel

  • Director: Avni Santani, PhD, Lab Director
    Phone: 267-426-5535
    Fax: 215-590-2156
    Email: santani@email.chop.edu
  • Director: Catherine Stolle, PhD, Lab Director
  • Brittany McLarney, MS, Genetic Counselor
    Phone: 267-426-1447 (U.S.A)
    Fax: 215-590-2156 (U.S.A)
    Email: mclarneyb@email.chop.edu

Conditions and tests

  • Achondroplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Alagille syndrome 13 tests
  • alpha Thalassemia3 tests
  • Angelman syndrome6 tests
  • Angelman syndrome-like2 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Arteriohepatic dysplasia1 test
  • Atypical Rett syndrome5 tests
  • Bent bone dysplasia syndrome1 test
  • beta Thalassemia4 tests
  • Blepharophimosis, ptosis, and epicanthus inversus4 tests
  • Cardio-facio-cutaneous syndrome5 tests
  • Carnitine palmitoyltransferase I deficiency2 tests
  • CHARGE association4 tests
  • Congenital central hypoventilation2 tests
  • Costello syndrome2 tests
  • Craniofrontonasal dysplasia4 tests
  • Craniosynostosis 11 test
  • Craniosynostosis syndrome1 test
  • Crouzon syndrome4 tests
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cutis Gyrata syndrome of Beare and Stevenson1 test
  • Cylindromatosis, familial5 tests
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 43 tests
  • Early myoclonic encephalopathy2 tests
  • Encephalopathy, neonatal severe, due to MECP2 mutations1 test
  • Enlarged vestibular aqueduct syndrome5 tests
  • Epileptic encephalopathy, early infantile, 14 tests
  • Fetal hemoglobin quantitative trait locus 12 tests
  • Fragile X syndrome1 test
  • Gilbert's syndrome1 test
  • Glucose transporter type 1 deficiency syndrome4 tests
  • Hb SS disease1 test
  • Hereditary leiomyomatosis and renal cell cancer3 tests
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes4 tests
  • Isolated coronal synostosis2 tests
  • Jackson-Weiss syndrome1 test
  • Legius syndrome1 test
  • LEOPARD syndrome4 tests
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 22 tests
  • LEOPARD syndrome 32 tests
  • Levy-Hollister syndrome1 test
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations5 tests
  • Mowat-Wilson syndrome4 tests
  • Muenke syndrome1 test
  • Multiple endocrine neoplasia, type 2a4 tests
  • Multiple endocrine neoplasia, type 2b2 tests
  • Multiple fibrofolliculomas3 tests
  • Myopathy, reducing body, X-linked, childhood-onset2 tests
  • Myopathy, reducing body, X-linked, early-onset, severe2 tests
  • Neuroblastoma 21 test
  • Neuroblastoma 33 tests
  • Noonan syndrome 12 tests
  • Noonan syndrome 32 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 72 tests
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
  • Noonan's syndrome8 tests
  • Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic Leukemia1 test
  • Noonan-like syndrome with loose anagen hair2 tests
  • Opitz-Frias syndrome4 tests
  • Osteoglophonic dysplasia1 test
  • Paragangliomas 15 tests
  • Paragangliomas 23 tests
  • Paragangliomas 35 tests
  • Paragangliomas 45 tests
  • Pfeiffer syndrome2 tests
  • Pheochromocytoma4 tests
  • Pitt-Hopkins syndrome4 tests
  • Prader-Willi syndrome1 test
  • Prothrombin deficiency, congenital1 test
  • PTEN hamartoma tumor syndrome4 tests
  • Renal cell carcinoma, papillary, 12 tests
  • Rett syndrome, congenital variant4 tests
  • Rett's disorder5 tests
  • Saethre-Chotzen syndrome4 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation1 test
  • Spiegler-Brooke syndrome5 tests
  • Thanatophoric dysplasia type 11 test
  • Thrombophilia due to activated protein C resistance1 test
  • Von Hippel-Lindau syndrome4 tests
  • West syndrome4 tests
  • X-linked dominant scapuloperoneal myopathy2 tests
  • X-linked myopathy with postural muscle atrophy2 tests
  • X-linked rolandic epilepsy with mental retardation and speech dyspraxia3 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 39D0198678, Expiration date: 2015-02-27
  • CAP, Number: 39D0198678, Expiration date: 2016-04-11

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