GTR Home > Tests > Test for PHKG2-Related Phosphorylase Kinase Deficiency

Overview

Conditions for which test is offered: PHKG2-Related Phosphorylase Kinase Deficiency

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region

Test services

  • Prenatal testing
  • Carrier testing

Test CommentHelp

  • Prenatal diagnosis only available for previously identified known familial mutations.

Contact Policy Help

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

Genetic counselor

  • Alicia Braxton, MS, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787
  • Laura Ellis, MS, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787
  • Sandra KG Peacock, MS, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787
  • Eric S Schmitt, MS, PhD, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787
  • Patricia A Ward, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787
  • Andrea A Ybarra, MS, Laboratory Genetic Counselor
  • Phone number: 800-411-GENE
  • Email: genetictest@bcm.edu
  • Fax number: 713-798-2787

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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