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PHKA2 Comprehensive - Sequence & Deletion/Duplication Analysis
Clinical Genetic Test
Help
offered by
Baylor Genetics
GTR Test Accession: Help GTR000510502.2
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2019-07-01
View version history
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Glycogen storage disease IXa1
Genes (1): Help
PHKA2 (Xp22.13)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
General population with clinical diagnosis of disease.
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Baylor Genetics
View lab's website
Who can order: Help
  • Licensed Physician
Test Order Code: Help
3994
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 …
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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:
Specimen source, Lab contact for this test, Test strategy, Test development
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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
General population with clinical diagnosis of disease.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99% aCGH Analytical Sensitivity >99%. Analytical Specificity >98% for deletions/duplications >1.0kb in the targeted gene region
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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