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TRPV4 Gene CMT2C NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TRPV4 Gene CMT2C NGS Genetic Test

Short Name: TRPV4 CMT2C NGS Test

Also known as: CMT2C Genetic Test, TRPV4 Gene Mutation Test, Charcot-Marie-Tooth Type 2C DNA Test

TRPV4 Gene CMT2C 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 typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Charcot-Marie-Tooth disease type 2C by identifying pathogenic mutations in the TRPV4 gene using Next-Generation Sequencing technology.

Test Code
1551
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Genetic counseling is recommended prior to testing.

Method: Venipuncture for blood, saliva collection kit

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist. Saliva collection may involve spitting into a tube.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: Results typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and draw a pedigree chart.
2
During the Test:Non-invasive sample collection (blood or saliva) performed at a lab or home.
3
After the Test:Results analyzed by geneticists, with report delivery online. Follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Charcot-Marie-Tooth disease type 2C by identifying pathogenic mutations in the TRPV4 gene using Next-Generation Sequencing technology.

How to Prepare

  • Ensure proper labeling of sample with patient details
  • Transport sample at ambient temperature
  • Follow kit instructions for saliva collection
  • Avoid hemolysis in blood samples

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing is crucial for early diagnosis and management of hereditary conditions like CMT2C, aiding in family planning and personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL of blood
ContainerEDTA tube for blood, sterile container for DNA
Collection MethodVenipuncture for blood, saliva collection kit

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TRPV4 gene, aiding in the diagnosis of CMT2C.
📊

Positive

Pathogenic variant detected in TRPV4 gene, confirming CMT2C diagnosis. Genetic counseling and management planning recommended.

📊

Negative

No pathogenic variant detected. If symptoms persist, consider other genetic or neurological tests. Clinical correlation is advised.

📊

Variant of Uncertain Significance (VUS)

A variant with unknown clinical significance. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms of CMT2C such as muscle weakness, tingling, balance issues, or have a family history of the disease, consult a neurologist or genetic specialist for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other causes of neuropathy

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●No physical risks from saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestTRPV4 Gene CMT2C NGS Genetic Test
ComparisonTRPV4 Gene CMT2C NGS Genetic Test

Frequently Asked Questions

What is the TRPV4 Gene CMT2C NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the TRPV4 gene, which causes Charcot-Marie-Tooth disease type 2C (CMT2C).
What are the symptoms of CMT2C?
Symptoms include muscle weakness and atrophy in limbs, tingling or numbness in hands/feet, balance issues, hammertoes, high arches, and foot drop.
How is the test performed?
The test requires a blood or saliva sample, which is analyzed in a laboratory using NGS technology to identify gene mutations.
What is the cost of the TRPV4 Gene CMT2C NGS Genetic Test?
The cost in India is approximately INR 20,000, though prices may vary by location and lab.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Who should consider getting this test?
Individuals with symptoms of CMT2C, a family history of the disease, or those seeking carrier testing for family planning.
Is the test painful?
No, the test involves a simple blood draw or saliva collection, which is minimally invasive and not painful.
Can the test detect carriers of the TRPV4 mutation?
Yes, the test can identify carriers who have one copy of the mutation but may not show symptoms.
What does a positive result mean?
A positive result confirms a diagnosis of CMT2C due to a pathogenic variant in the TRPV4 gene. Genetic counseling is recommended for next steps.
What if the test is negative but symptoms persist?
A negative result means no pathogenic variant was detected in TRPV4. Further evaluation for other causes of neuropathy may be needed.
How should I prepare for the test?
No special preparation is required. Genetic counseling before testing is advised to understand the implications.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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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✓ 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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