PGM1 Gene Glycogen storage disease type 14 NGS Genetic Test
Short Name: PGM1 Gene GSD14 NGS Test
Also known as: Phosphoglucomutase 1 Deficiency Test, GSD14 Genetic Test
PGM1 Gene Glycogen storage disease type 14 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 Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.. 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 Glycogen Storage Disease Type 14 (GSD14) by detecting mutations in the PGM1 gene using next-generation sequencing, enabling accurate treatment planning and genetic counseling.
- Test Code
- 2024
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Ensure proper sample collection kits are available and patient history is reviewed.
Method: Venipuncture
Laboratory Analysis
Collect blood via standard venipuncture technique, using EDTA tube or FTA card as specified.
Report Delivery
Label sample correctly with patient details and transport at ambient room temperature to the laboratory.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Glycogen Storage Disease Type 14 (GSD14) by detecting mutations in the PGM1 gene using next-generation sequencing, enabling accurate treatment planning and genetic counseling.
How to Prepare
- Use an EDTA tube for blood samples or an FTA card for one-drop blood
- Avoid hemolysis by proper handling
- Store samples at room temperature
- Ensure accurate labeling of all tubes or cards
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for metabolic disorders like GSD14 is crucial for early intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Consult a geneticist or metabolic specialist if symptoms such as enlarged liver, muscle weakness, hypoglycemia, or delayed growth appear, or if there is a family history of GSD14.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or insertions
- ⚠False negatives are possible in rare cases
- ⚠Cannot predict disease severity or exact onset age
- ⚠Results require interpretation by a genetic specialist
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising, pain, or rare infection at the puncture site
Interfering Factors
- ●DNA degradation due to improper sample handling
- ●Sample contamination
- ●Incorrect sample type collection
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Frequently Asked Questions
What is Glycogen Storage Disease Type 14 (GSD14)?
What does the PGM1 Gene NGS Genetic Test involve?
How is the sample collected for this test?
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Is home sample collection available for this test?
What is the cost of the PGM1 Gene GSD14 NGS Genetic Test?
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Reference Laboratory Services
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Your Data Privacy
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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