GDAP1 Gene CMT4A NGS Genetic Test
Short Name: GDAP1 Gene CMT4A NGS Test
Also known as: CMT4A Genetic Test, GDAP1 Mutation Analysis, Charcot-Marie-Tooth Type 4A Genetic Test
GDAP1 Gene CMT4A 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 Reports are typically available within 3 to 4 weeks after sample collection.. 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 the GDAP1 Gene CMT4A NGS Genetic Test is to diagnose Charcot-Marie-Tooth disease type 4A by detecting pathogenic mutations in the GDAP1 gene. This helps confirm the clinical suspicion, guide treatment and management strategies, identify carriers within families, and provide information for genetic counseling and reproductive planning.
- Test Code
- 1560
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Pre-test information includes obtaining a detailed clinical history of the patient and conducting a genetic counseling session to draw a pedigree chart of family members affected with CMT4A or related disorders.
Method: Venipuncture for blood collection
Laboratory Analysis
Sample collection involves drawing blood via venipuncture or using an FTA card for a drop of blood. The process is minimally invasive and performed by trained phlebotomists.
Report Delivery
After collection, the sample is labeled, processed, and sent to the laboratory for DNA extraction and NGS analysis. Patients may experience minor bruising at the puncture site.
Timeline: Reports are typically available within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GDAP1 Gene CMT4A NGS Genetic Test is to diagnose Charcot-Marie-Tooth disease type 4A by detecting pathogenic mutations in the GDAP1 gene. This helps confirm the clinical suspicion, guide treatment and management strategies, identify carriers within families, and provide information for genetic counseling and reproductive planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Store the sample at ambient room temperature until transport
- For FTA cards, apply one drop of blood and allow it to dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CMT4A is essential for accurate diagnosis, management, and family counseling. Early detection can guide treatment and inform reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample is hemolyzed, clotted, or insufficient
- Incorrect labeling or missing patient information
- Sample received after stability period
- Improper storage conditions leading to DNA degradation
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of CMT4A. Genetic counseling and further clinical management recommended.
Negative for pathogenic variant
No mutations detected in GDAP1 gene. Consider other genetic or non-genetic causes based on clinical symptoms.
Variant of uncertain significance (VUS)
A genetic change was found but its clinical significance is unknown. Correlation with family studies and clinical follow-up is advised.
Consult a doctor if you experience symptoms such as progressive muscle weakness, foot deformities, or numbness, or if there is a family history of CMT4A. After receiving test results, seek genetic counseling for interpretation and management planning.
Limitations
- ⚠May not detect all possible mutations in the GDAP1 gene
- ⚠Results should be interpreted in conjunction with clinical evaluation and family history
- ⚠Does not rule out other forms of Charcot-Marie-Tooth disease or neurological disorders
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●No significant risks associated with the genetic analysis itself
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample storage or handling
- ●Recent blood transfusion may affect DNA analysis
Compare With Similar Tests
| Test | GDAP1 Gene CMT4A NGS Genetic Test | EMG and Nerve Conduction Studies | Clinical Physical Examination | Other CMT Genetic Panels | Sanger Sequencing |
|---|---|---|---|---|---|
| Comparison | GDAP1 Gene CMT4A NGS Genetic Test |
Frequently Asked Questions
What is the GDAP1 Gene CMT4A NGS Genetic Test?
Why is this test recommended?
What does a positive result mean?
What if the test is negative?
Is the test painful?
How long does it take to get results?
Is home sample collection available?
What is the cost of the test?
Can the test detect all CMT4A mutations?
Who should undergo this test?
Is genetic counseling included?
How do I prepare for the test?
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