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GTR Home > Tests > Myotubular Myopathy, X-linked

Laboratory contact

Laboratory information

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Greenwood Genetic Center Diagnostic Laboratories, GGC, GGC-MDL
Greenwood Genetic Center

Laboratory director(s)

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  • Fatima Abidi, PhD, ABMG, DABMG, Lab Director
  • Raymond Caylor, PhD, Lab Director
  • Barb DuPont, PhD, ABMG, FACMG, DABMG, Lab Director
  • Michael Friez, PhD, ABMG, FACMG, DABMG, Lab Director
  • Julie Jones, PhD, ABMG, FACMG, DABMG, Lab Director
  • Jennifer Lee, PhD, ABMG, FACMG, DABMG, Lab Director
  • Ray Louie, PhD, ABMG, DABMG, Lab Director
  • Laura Pollard, PhD, ABMG, FACMG, DABMG, Lab Director
  • Tim Wood, PhD, ABMG, FACMG, DABMG, Lab Director

Laboratory contact for this test

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  • Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
  • Phone Number: 864-388-1055
  • Email: rfletcher@ggc.org
  • Fax Number: 864-941-8141
  • Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
  • Phone Number: 334-246-3647
  • Email: kwalden@ggc.org

Laboratory contact

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  • 106 Gregor Mendel Circle
  • Greenwood, South Carolina 29646
  • United States

Laboratory services offered

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  • Maternal cell contamination study (MCC)
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

Laboratory credentials

CLIA certification

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  • Number: 42D0689473, Expiration: 2019-08-16

State license(s)

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  • PA - Pennsylvania Department of Health PADOH, License number: 033852, Expiration: 2018-08-15
  • FL - Florida Agency for Health Care Administration AHCA, License number: 800028488, Expiration: 2019-03-05
  • MD - Maryland Department of Health and Mental Hygiene DHMH, License number: 2044, Expiration: 2019-06-30
  • CA - California Department of Public Health CDPH, License number: CDS00800880, Expiration: 2019-07-22

Certifications

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  • CAP, Number: 3833401, Expiration: 2019-07-15

Suggested reading

  • Frase, 2016
    Dream On: The Pursuit to Cure Myotubular Myopathy Born out of a Mother's Vision

Practice guidelines

  • EuroGenetest, 2012
    Clinical utility gene card for: Centronuclear and myotubular myopathies.

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.