FGD4 Gene CMT4H NGS Genetic Test
Short Name: FGD4 CMT4H NGS Test
Also known as: CMT4H Genetic Test, FGD4 Gene Sequencing, FGD4 Mutation Analysis, Charcot-Marie-Tooth Type 4H NGS Test
FGD4 Gene CMT4H 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 NGS sequencing and bioinformatics analysis take approximately 3 to 4 weeks from receipt of the sample 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
The purpose of this test is to detect clinically significant mutations in the FGD4 gene and confirm a diagnosis of Charcot-Marie-Tooth disease type 4H.
- Test Code
- 3968
- CPT Code
- Not applicable
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- NGS sequencing and bioinformatics analysis take approximately 3 to 4 weeks from receipt of the sample at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Please schedule a genetic counselling session before the test. No special dietary preparation or fasting is required. The counsellor will draw the pedigree chart and explain the scope of testing, inheritance pattern, and possible outcomes. Bring previous neurological evaluation reports, nerve conduction study results, or prior genetic test reports if available.
Method: Peripheral blood draw, FTA card spot or extracted DNA submission
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. If using an FTA card, one drop of blood is placed on the card and allowed to air dry. The procedure is quick and involves minimal discomfort.
Report Delivery
There are no activity restrictions after sample collection. The sample is transported to the laboratory under the recommended storage conditions. Reports will be delivered through your selected mode within 3 to 4 weeks after the sample reaches the lab.
Timeline: NGS sequencing and bioinformatics analysis take approximately 3 to 4 weeks from receipt of the sample at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect clinically significant mutations in the FGD4 gene and confirm a diagnosis of Charcot-Marie-Tooth disease type 4H.
How to Prepare
- No fasting required
- Genetic counselling session must be completed before sample collection
- FTA card or EDTA blood sample accepted
- Carry a valid government ID and the test requisition form
- Free home sample collection is available for online bookings
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling and precise molecular diagnosis are essential for rare inherited neuropathies like CMT4H. Early identification of a pathogenic FGD4 variant can guide reproductive planning and avoid unnecessary diagnostic workup. Obstetric referral is especially relevant for couples at 25% recurrence risk when both parents are carriers."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Clotted or haemolysed blood sample
- Inadequate sample quantity
- Sample transporter temperature not maintained
- Missing clinical history, consent, or genetic counselling documentation
Understanding Your Results
Positive - Pathogenic or likely pathogenic variant detected
A disease-causing variant was found in the FGD4 gene, confirming the molecular diagnosis of CMT4H.
Negative - No pathogenic variant detected
No clinically significant variant was identified in FGD4. CMT4H remains less likely but not fully excluded.
Variant of uncertain significance (VUS)
A genetic variant was identified, but its effect on the FGD4 protein is not yet well established.
Carrier
A single heterozygous pathogenic variant was identified in FGD4, consistent with autosomal recessive carrier status.
If the test report identifies a pathogenic, likely pathogenic, or uncertain significant variant, please consult a clinical geneticist and a neurologist to understand the implications for treatment, surveillance, and family planning.
Limitations
- ⚠This test specifically analyses the FGD4 gene and does not evaluate other CMT-associated genes
- ⚠Standard NGS may not reliably detect large deletions, duplications, or structural rearrangements involving FGD4
- ⚠Variants in deep non-coding regulatory regions may not be detected by targeted gene sequencing
- ⚠A negative result cannot exclude a genetic cause from another gene
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site
- ●Dizziness or lightheadedness during blood collection
- ●Very rare local infection or hematoma at the needle site
Interfering Factors
- ●Allogeneic bone marrow transplant may cause donor-derived DNA results
- ●Recent blood transfusion can affect analysis of white blood cell-derived DNA
- ●Poor DNA quality or quantity due to improper storage and transport
Compare With Similar Tests
| Test | FGD4 Gene CMT4H NGS Genetic Test | ||
|---|---|---|---|
| Comparison | FGD4 Gene CMT4H NGS Genetic Test |
Frequently Asked Questions
What is the FGD4 Gene CMT4H NGS Genetic Test?
What is CMT4H?
Why is NGS used for CMT4H?
What is the cost of this test?
Which samples are accepted for this test?
Is fasting required for this test?
Do I need genetic counselling before this test?
How long do the reports take?
What do positive, negative, and VUS results mean?
Can this test determine carrier status?
Will this test detect all types of CMT mutations?
Can CMT4H be cured after a genetic test?
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