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Center for Genetics at Saint Francis

GTR Lab ID: 1063, Last updated:2017-08-07


Conditions and tests

  • 21-hydroxylase deficiency1 test
  • Achondroplasia1 test
  • Acrocephalosyndactyly type I3 tests
  • Albright's hereditary osteodystrophy1 test
  • Aminoglycoside-induced deafness2 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Androgen resistance syndrome1 test
  • Angelman syndrome1 test
  • Antley-Bixler syndrome2 tests
  • Blau syndrome1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cystic fibrosis1 test
  • Deafness, autosomal dominant 3a3 tests
  • Deafness, autosomal recessive 1A3 tests
  • Dentatorubral pallidoluysian atrophy1 test
  • Dwarfism1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Frontotemporal dementia3 tests
  • Frontotemporal dementia, ubiquitin-positive1 test
  • Hereditary ataxia1 test
  • Huntington's chorea1 test
  • Hypochondroplasia1 test
  • Inflammatory bowel disease 11 test
  • Jackson-Weiss syndrome2 tests
  • Klein-Waardenberg's syndrome1 test
  • Kugelberg-Welander disease1 test
  • Li-Fraumeni syndrome 11 test
  • Loeys-Dietz syndrome 12 tests
  • Marfan syndrome3 tests
  • MASS syndrome3 tests
  • McCune-Albright syndrome1 test
  • Muenke syndrome3 tests
  • Neural tube defects, folate-sensitive1 test
  • Pendred's syndrome1 test
  • Pfeiffer syndrome2 tests
  • Prader-Willi syndrome2 tests
  • Progressive osseous heteroplasia1 test
  • Pseudohypoparathyroidism type 1A1 test
  • Pseudopseudohypoparathyroidism1 test
  • Saethre-Chotzen syndrome2 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation2 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Spinal muscular atrophy, type II1 test
  • Spinocerebellar ataxia 11 test
  • Spinocerebellar ataxia 21 test
  • Spinocerebellar ataxia 61 test
  • Spinocerebellar ataxia 71 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stiff skin syndrome3 tests
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Werdnig-Hoffmann disease1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses


  • CLIAHelp, Number: 37D0474681, Expiration date: 2018-10-19
  • CAP, Number: 2050201, Expiration date: 2017-12-10


  • CA - California Department of Public Health CDPH, Number: COS 00800312, Expiration date: 2017-08-17
  • PA - Pennsylvania Department of Health PADOH, Number: 033970, Expiration date: 2017-08-15

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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