GTR Home > Laboratories > Center for Genetics at Saint Francis

Center for Genetics at Saint Francis

GTR Lab ID: 1063
Last updated: 2014-05-02

General information

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Conditions and tests

  • 21-hydroxylase deficiency1 test
  • 22q11.2 Deletion Syndrome1 test
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency1 test
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency1 test
  • 3-Methylglutaconic Aciduria Type 11 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
  • Angelman syndrome1 test
  • Antley-Bixler syndrome2 tests
  • Arginase Deficiency1 test
  • Argininosuccinate Lyase Deficiency1 test
  • Blau Syndrome1 test
  • Blau syndrome1 test
  • Canavan Disease1 test
  • Carnitine Palmitoyltransferase IA Deficiency1 test
  • Carnitine Palmitoyltransferase II Deficiency1 test
  • Carnitine-Acylcarnitine Translocase Deficiency1 test
  • Carnosinemia1 test
  • Citrullinemia Type I1 test
  • Cri du Chat Syndrome1 test
  • Crohn Disease1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cystic fibrosis1 test
  • DRPLA1 test
  • Deafness, autosomal dominant 3a3 tests
  • Deafness, autosomal recessive 1A3 tests
  • Dentatorubral pallidoluysian atrophy1 test
  • Ethylmalonic Encephalopathy1 test
  • FGFR1-Related Craniosynostosis1 test
  • FGFR2-Related Craniosynostosis1 test
  • FGFR3-Related Craniosynostosis1 test
  • FMR1-Related Disorders1 test
  • Factor V Leiden Thrombophilia1 test
  • Fragile X syndrome1 test
  • Friedreich Ataxia1 test
  • Friedreich ataxia 11 test
  • Frontotemporal dementia3 tests
  • Frontotemporal dementia, ubiquitin-positive1 test
  • GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
  • GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness1 test
  • GRN-Related Frontotemporal Dementia1 test
  • Glutaricacidemia Type 11 test
  • Glutathione Synthetase Deficiency1 test
  • Hartnup Disease1 test
  • Histidinemia1 test
  • Holocarboxylase Synthetase Deficiency1 test
  • Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency1 test
  • Huntington Disease1 test
  • Huntington's chorea1 test
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome1 test
  • Hyperprolinemia, Type I1 test
  • Hyperprolinemia, Type II1 test
  • Hypochondroplasia2 tests
  • Iminoglycinuria1 test
  • Inflammatory bowel disease 12 tests
  • Isovaleric Acidemia1 test
  • Jackson-Weiss syndrome2 tests
  • Ketothiolase Deficiency1 test
  • Klein-Waardenberg's syndrome1 test
  • Kugelberg-Welander disease1 test
  • Li-Fraumeni Syndrome1 test
  • Li-Fraumeni syndrome 11 test
  • Loeys-Dietz syndrome 12 tests
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency1 test
  • Lysinuric Protein Intolerance1 test
  • MAPT-Related Disorders1 test
  • MASS syndrome3 tests
  • MT-RNR1-Related Hearing Loss and Deafness1 test
  • MT-TS1-Related Hearing Loss and Deafness1 test
  • MTHFR Thermolabile Variant1 test
  • Maple Syrup Urine Disease1 test
  • Marfan Syndrome1 test
  • Marfan's syndrome3 tests
  • McCune-Albright Syndrome1 test
  • McCune-Albright syndrome1 test
  • Methylmalonic Acidemia1 test
  • Muenke syndrome3 tests
  • Multiple Acyl-CoA Dehydrogenase Deficiency1 test
  • Neural tube defects, folate-sensitive1 test
  • Ornithine Aminotransferase Deficiency1 test
  • Osseus Heteroplasia, Progressive1 test
  • Pendred's syndrome1 test
  • Pfeiffer syndrome2 tests
  • Phenylalanine Hydroxylase Deficiency1 test
  • Polycystic Kidney Disease 1, Autosomal Dominant1 test
  • Polycystic Kidney Disease 2, Autosomal Dominant1 test
  • Polycystic kidney disease, adult type2 tests
  • Prader-Willi Syndrome1 test
  • Prader-Willi syndrome2 tests
  • Progressive osseous heteroplasia1 test
  • Propionic Acidemia1 test
  • Prothrombin-Related Thrombophilia1 test
  • Pseudohypoparathyroidism Type IA1 test
  • Pseudohypoparathyroidism type 1A1 test
  • Pseudopseudohypoparathyroidism1 test
  • SOD1-Related Amyotrophic Lateral Sclerosis1 test
  • Saethre-Chotzen Syndrome1 test
  • Saethre-Chotzen syndrome2 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation2 tests
  • Short Chain Acyl-CoA Dehydrogenase Deficiency1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Smith-Magenis Syndrome1 test
  • Spinal Muscular Atrophy (SMN1)1 test
  • Spinal muscular atrophy, type II1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stiff skin syndrome3 tests
  • Systemic Primary Carnitine Deficiency1 test
  • TGFBR1-Related Loeys-Dietz Syndrome1 test
  • TGFBR2-Related Loeys-Dietz Syndrome1 test
  • Thrombophilia1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tyrosinemia Type I1 test
  • Tyrosinemia Type II1 test
  • Tyrosinemia Type III1 test
  • Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency1 test
  • Waardenburg Syndrome Type I1 test
  • Waardenburg Syndrome Type IIA1 test
  • Waardenburg Syndrome Type III1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Werdnig-Hoffmann disease1 test
  • Williams Syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses


  • CLIAHelp, Number: 37D0474681, Expiration date: 2014-10-19
  • CAP, Number: 2050201, Expiration date: 2013-12-10


  • CA - California Department of Public Health CDPH, Number: COS 00800312, Expiration date: 2013-08-18

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