PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test
Short Name: PHKA2 GSD Type 9A Test
Also known as: GSD Type 9A, Phosphorylase Kinase Deficiency Type 9A, X-linked Liver Glycogenosis
PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the PHKA2 gene to diagnose Glycogen Storage Disease Type 9A, confirm clinical suspicions, identify carriers, and support genetic counseling for affected families.
- Test Code
- 2028
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- Yes
- Method
- NGS Technology
Sample Collection
Ensure patient has fasted if required. Provide clinical history and pedigree chart for genetic counseling.
Method: Venipuncture
Laboratory Analysis
Collect blood sample via venipuncture using sterile techniques. For FTA card, apply one drop of blood and air dry.
Report Delivery
Label samples properly and transport to lab at ambient temperature. Avoid hemolysis or contamination.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the PHKA2 gene to diagnose Glycogen Storage Disease Type 9A, confirm clinical suspicions, identify carriers, and support genetic counseling for affected families.
How to Prepare
- Fast for 8-12 hours before blood draw if indicated
- Use EDTA tube for blood collection
- For FTA card, ensure blood is fully dried before packaging
- Include completed requisition form with clinical details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PHKA2 mutations is essential for early diagnosis and management of Glycogen Storage Disease Type 9A, especially in families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect sample type
- Inadequate sample volume
- Missing patient identifiers
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GSD Type 9A. Recommend genetic counseling and family screening.
Negative for pathogenic variant
GSD Type 9A is less likely. Consider other metabolic disorders or further testing.
Variant of uncertain significance
Requires additional family studies or functional assays. Monitor symptoms and consult genetic specialist.
Consult a doctor if you experience symptoms like recurrent hypoglycemia, enlarged liver, muscle weakness, or if there is a family history of glycogen storage disease. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may be influenced by mosaicism or somatic mutations
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Improper sample storage
- ●Hemolysis in blood sample
Compare With Similar Tests
| Test | PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test | PHKA2 Gene Sanger Sequencing | Full Glycogen Storage Disease Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test |
Frequently Asked Questions
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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