PHKB Gene Glycogen storage disease type 9B NGS Genetic Test
Short Name: PHKB Gene GSD9B NGS Test
Also known as: GSD9B, Glycogen Storage Disease Type IXB, PHKB-related GSD
PHKB Gene Glycogen storage disease type 9B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 diagnose Glycogen Storage Disease Type 9B by detecting mutations in the PHKB gene, aiding in clinical management, family planning, and personalized treatment strategies.
- Test Code
- 2029
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and pedigree chart; no fasting required.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture for blood draw; minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site; resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Glycogen Storage Disease Type 9B by detecting mutations in the PHKB gene, aiding in clinical management, family planning, and personalized treatment strategies.
How to Prepare
- Ensure proper sample labeling
- Use sterile collection equipment
- Transport sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PHKB gene mutations is crucial for early diagnosis and management of GSD9B, especially in families with a history of metabolic disorders. It aids in informed reproductive decisions and personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of GSD9B; recommend genetic counseling and management plan.
No pathogenic variant detected
GSD9B unlikely based on this gene; consider other metabolic disorders.
Variant of uncertain significance
Requires further family studies and clinical correlation.
Consult a genetic specialist or metabolic disease expert if symptoms persist or for family planning advice after receiving results.
Limitations
- ⚠May not detect all rare mutations in the PHKB gene
- ⚠Requires genetic counseling for result interpretation
- ⚠Not a substitute for comprehensive clinical evaluation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion
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Frequently Asked Questions
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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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