PHKA1 Gene Muscle glycogenosis NGS Genetic Test
Short Name: PHKA1 Gene Muscle Glycogenosis Test
PHKA1 Gene Muscle glycogenosis 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
To diagnose PHKA1 gene mutations causing muscle glycogenosis by detecting pathogenic variants through NGS technology.
- Test Code
- 2188
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history and genetic counseling recommended.
Laboratory Analysis
Standard blood draw procedure.
Report Delivery
Sample sent for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose PHKA1 gene mutations causing muscle glycogenosis by detecting pathogenic variants through NGS technology.
How to Prepare
- Fasting not required
- Bring identification and prescription
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PHKA1 mutations can confirm diagnosis and inform family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Diagnosis of PHKA1-related muscle glycogenosis confirmed.
No pathogenic variant
No mutation found; clinical correlation advised.
If symptoms persist or worsen, consult a geneticist or neurologist.
Limitations
- ⚠Test only detects mutations in PHKA1 gene
- ⚠May not detect all genetic variations
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible genetic implications for family members
Frequently Asked Questions
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