GDAP1 Gene CMT2K NGS Genetic Test
Short Name: GDAP1 CMT2K NGS
Also known as: GDAP1 Mutation Analysis, CMT2K Genetic Test, GDAP1 Gene Sequencing, Charcot-Marie-Tooth Type 2K Gene Test
GDAP1 Gene CMT2K 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 The report will be issued within 3 to 4 weeks from the date the laboratory receives the sample.. 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
This NGS genetic test is intended to analyse the GDAP1 gene coding and splice sites to identify disease-causing variants in patients with CMT2K. The result helps confirm clinical diagnosis, allows differentiation from other inherited neuropathies, and enables genetic counselling and family risk assessment.
- Test Code
- 3974
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report will be issued within 3 to 4 weeks from the date the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A referral from a neurologist or clinical geneticist is recommended. Pre-test genetic counselling to prepare a family pedigree is advised. The patient should carry a valid photo ID and previous nerve conduction study or EMG reports if available.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
For a blood sample, a small volume is drawn into an EDTA tube. For an FTA card, a few drops of blood are placed on the card. The patient details should be correctly written on the label before dispatch.
Report Delivery
No restriction on diet or activity. The sample will be transported to the laboratory. The laboratory may contact the patient or referring physician if a repeat collection is needed.
Timeline: The report will be issued within 3 to 4 weeks from the date the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
This NGS genetic test is intended to analyse the GDAP1 gene coding and splice sites to identify disease-causing variants in patients with CMT2K. The result helps confirm clinical diagnosis, allows differentiation from other inherited neuropathies, and enables genetic counselling and family risk assessment.
How to Prepare
- Use an EDTA vacutainer for blood collection or an FTA card for a blood spot.
- Label the tube/card with patient name, date of birth and collection date.
- Send the completed requisition form and signed consent with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive GDAP1 result must be correlated with clinical and electrophysiological findings. Genetic testing also helps identify at-risk family members who may benefit from early monitoring."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or grossly haemolysed blood samples.
- Mislabelled sample or mismatch between sample and requisition form.
- Inadequate sample volume or empty/incomplete FTA card.
- Sample received in an inappropriate transport medium or without proper packaging.
Understanding Your Results
Pathogenic variant detected
Molecular confirmation of GDAP1-related CMT2K.
Clinical action: Genetics consultation, family screening and reproductive counselling.
Likely pathogenic variant detected
Variant is most likely disease-causing when clinical findings match CMT2K.
Clinical action: Segregation analysis in family members and follow-up genetic counselling.
Variant of uncertain significance detected
Not enough evidence to classify as benign or disease-causing.
Clinical action: Further testing of family members; functional studies may be considered in research setting.
No pathogenic variant detected
No disease-causing GDAP1 variant identified by this test.
Clinical action: Consider a broader CMT gene panel or re-evaluation by a neurologist.
Consult your referring neurologist or a clinical geneticist if you receive a positive, VUS or uncertain result. Even with a negative result, a strong family history of CMT should prompt discussion of additional genetic testing options.
Limitations
- ⚠This targeted test only analyses the GDAP1 gene; mutations in other CMT-causing genes will not be detected.
- ⚠NGS may miss large copy number variants, deep intronic variants and some structural rearrangements unless specific bioinformatics analysis is performed.
- ⚠A variant of uncertain significance (VUS) is not interpreted as disease-causing without further evidence.
- ⚠A negative result does not completely exclude CMT2K or another genetic neuropathy.
- ⚠Results should always be interpreted by a qualified geneticist in the context of clinical and family history.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site.
- ●Rare risk of bleeding or infection at the venepuncture site.
- ●Anxiety or discomfort related to needle insertion.
- ●Genetic testing may reveal information relevant to family members; genetic counselling is recommended.
Interfering Factors
- ●Allogeneic bone marrow transplant can cause donor-derived DNA to be present in blood, affecting the result.
- ●DNA contamination from another individual during sample collection or handling.
- ●Severely degraded DNA due to prolonged storage or exposure to heat.
- ●Insufficient DNA quantity due to low blood volume or poor FTA card spotting.
Compare With Similar Tests
| Test | GDAP1 Gene CMT2K NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | GDAP1 Gene CMT2K NGS Genetic Test |
Frequently Asked Questions
What is the cost of the GDAP1 Gene CMT2K NGS Genetic Test at DNA Labs India?
What sample is needed for this test?
Is fasting required before the test?
How long does it take to get the report?
What does this genetic test look for?
Can a negative test completely rule out CMT2K?
Will I receive raw data or sequencing files?
Do I need genetic counselling before the test?
Is home sample collection available?
Can this test be used for carrier testing?
What is CMT2K?
When should I consider this test?
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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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