LDHA Gene Glycogen storage disease type 11 NGS Genetic Test
Short Name: LDHA Gene GSD11 NGS Test
Also known as: GSD11 Genetic Test, Lactate Dehydrogenase A Gene Test, Glycogen Storage Disease Type XI Test
LDHA Gene Glycogen storage disease type 11 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 primary purpose of this test is to diagnose Glycogen Storage Disease Type 11 (GSD11) by identifying genetic mutations in the LDHA gene. It helps confirm clinical suspicions based on symptoms like muscle weakness and exercise intolerance, differentiating GSD11 from other metabolic disorders. The test supports genetic counseling for affected families, guides treatment plans, and enables carrier testing for relatives. It is also valuable for research and understanding the genetic basis of rare metabolic diseases.
- Test Code
- 2019
- 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
No special preparation is required. Ensure the patient's clinical history and family pedigree are reviewed during genetic counseling. Avoid strenuous exercise before sample collection to minimize risk of hemolysis.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. For FTA card, a small drop of blood is applied. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. The sample is labeled and sent to the lab under controlled conditions. No specific aftercare is needed beyond standard post-venipuncture instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to diagnose Glycogen Storage Disease Type 11 (GSD11) by identifying genetic mutations in the LDHA gene. It helps confirm clinical suspicions based on symptoms like muscle weakness and exercise intolerance, differentiating GSD11 from other metabolic disorders. The test supports genetic counseling for affected families, guides treatment plans, and enables carrier testing for relatives. It is also valuable for research and understanding the genetic basis of rare metabolic diseases.
How to Prepare
- Ensure proper identification of the patient and sample labeling.
- Use sterile equipment to prevent contamination.
- For blood samples, collect in EDTA tubes and mix gently.
- For FTA cards, allow blood to dry completely before storage.
- Transport samples at ambient room temperature as specified.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare metabolic disorders like GSD11, especially in families with a history of muscle weakness or exercise intolerance. Early detection can guide management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect sample type or volume
- Unlabeled or mislabeled samples
- Samples collected with improper anticoagulant
Understanding Your Results
Positive for pathogenic LDHA mutation
Confirms diagnosis of GSD11. Genetic counseling and monitoring for symptoms recommended.
Negative for pathogenic mutations
GSD11 unlikely, but clinical evaluation should continue if symptoms persist.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to determine clinical relevance.
Consult a doctor if experiencing persistent muscle weakness, exercise intolerance, unexplained fatigue, or cardiac issues, especially with a family history of metabolic disorders. Also seek advice for genetic counseling if planning a family with known GSD11 carriers.
Limitations
- ⚠May not detect all possible mutations or structural variants
- ⚠Results require clinical correlation for diagnosis
- ⚠Does not assess enzyme activity levels directly
- ⚠Limited to LDHA gene; other genes causing similar symptoms may not be evaluated
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact from genetic results
- ●No significant health risks associated with the test itself
Interfering Factors
- ●Sample contamination or degradation
- ●Recent blood transfusion
- ●Hemolyzed or improperly stored samples
- ●Use of certain medications that may affect enzyme levels
Compare With Similar Tests
| Test | LDHA Gene Glycogen storage disease type 11 NGS Genetic Test | Biochemical Lactate/Pyruvate Test | Sanger Sequencing for LDHA | Muscle Biopsy | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | LDHA Gene Glycogen storage disease type 11 NGS Genetic Test | Measures enzyme activity indirectly but may not confirm genetic cause. | Targets specific mutations; NGS offers broader gene coverage. | Invasive procedure; genetic test is non-invasive and more specific. | Broader scope but higher cost; this test is targeted for LDHA gene. |
Frequently Asked Questions
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