PHKG2 Sequence Analysis (Prenatal Diagnosis)
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000510508.2
INHERITED DISEASEMETABOLIC DISEASEDIGESTIVE SYSTEM ... View more
Last updated in GTR: 2019-07-01
Last annual review date for the lab: 2023-07-21 LinkOut
At a Glance
Diagnosis
Glycogen storage disease IXc
Genes (1): Help
PHKG2 (16p11.2)
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Pregnancies at-risk for familial mutations
Not provided
Not provided
Ordering Information
Offered by: Help
Baylor Genetics
View lab's website
Who can order: Help
  • Licensed Physician
Test Order Code: Help
3982
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.
How to Order: Help
For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the …
View more
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Pregnancies at-risk for familial mutations
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.