GTR Home > Tests > Test for PHKA2-Related Phosphorylase Kinase Deficiency


Conditions for which test is offered: PHKA2-Related Phosphorylase Kinase Deficiency

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region

Test services

  • Prenatal testing
  • Carrier testing

Test CommentHelp

  • Carrier testing restricted to at-risk biologic family members only
  • PHKA2 analysis is available separately or within a panel of 18 genes causing Glycogen Storage Diseases using Next Generation Sequencing. Screening includes identification of sequence and copy number variants.

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.

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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