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Genetics Laboratory

GTR Lab ID: 1241, Last updated:2020-03-06
Annual Review past due read more

Personnel

  • Director: Abdallah Elias, MD, Lab Director
    Phone: 406-444-7500
    Fax: 406-444-1022
    Email: aelias@shodair.org
  • Corbin Schwanke, BA, Administrator
    Phone: 406-444-7532
    Fax: 406-884-2088
    Email: cschwanke@shodair.org
  • Dongbin Xu, PhD,

Conditions and tests

  • 46,XX testicular disorder of sex development1 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Angelman syndrome2 tests
  • Beckwith-Wiedemann syndrome2 tests
  • Chromosome 16, uniparental disomy2 tests
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome1 test
  • Complete trisomy 21 syndrome1 test
  • Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
  • Distal monosomy 10p1 test
  • Dizygotic twins1 test
  • Fragile X syndrome1 test
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Global developmental delay1 test
  • Hemochromatosis type 11 test
  • Huntington disease1 test
  • Intellectual disability1 test
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
  • Miller Dieker syndrome1 test
  • Mosaic trisomy 211 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect2 tests
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Multiple congenital anomalies1 test
  • Paternal uniparental disomy of chromosome 142 tests
  • Prader-Willi syndrome2 tests
  • Retinoblastoma1 test
  • Sex-linked hereditary disorder1 test
  • Silver-Russell syndrome 11 test
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Smith-Magenis syndrome1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Thakker-Donnai syndrome1 test
  • Thrombophilia due to activated protein C resistance1 test
  • Thrombophilia due to thrombin defect1 test
  • Trilateral retinoblastoma1 test
  • Twinning, monozygotic1 test
  • Uniparental disomy of 112 tests
  • Uniparental disomy of 72 tests
  • Uniparental disomy of chromosome 61 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • X inactivation, familial skewed, 11 test
  • X inactivation, familial skewed, 21 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies
  • Angelman Syndrome Methylation
  • Beckwith-Wiedemann Syndrome Methylation
  • Chromosomal Microarray Analysis
  • Cystic Fibrosis Mutation Screening
  • Cytogenetic Analysis (Constitutional and Hematology Oncology)
  • Drug Metabolism Testing
  • FISH Analysis (Constitutional and Hematology Oncology)
  • Fragile X Syndrome Testing
  • Maternal Serum Screening
  • Myotonic Dystrophy Mutation Analysis
  • Prader-Willi Syndrome Methylation
  • Prenatal karyotyping and FISH Testing
  • Russell-Silvr Syndrome Testing
  • UPD chromosome 14 Methylation Testing
  • ? Factor V Leiden / Prothrombin / MTHFR Variant Testing
  • ? Hemochromatosis Mutation Analysis
  • ? Huntington Disease Mutation Testing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 27D0652530, Expiration date: 2021-01-02
  • JCAHO, Number: 27D0652530, Expiration date: 2021-05-11

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)

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.