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SH3TC2 Gene CMT4C NGS Genetic Test

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SH3TC2 Gene CMT4C NGS Genetic Test

Short Name: CMT4C Genetic Test

Also known as: CMT4C Genetic Test, SH3TC2 Mutation Analysis, Charcot-Marie-Tooth Type 4C Genetic Test

SH3TC2 Gene CMT4C 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.

NGS Genetic TestPediatric and Adult🏠 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

The purpose of the SH3TC2 Gene CMT4C NGS Genetic Test is to detect pathogenic mutations in the SH3TC2 gene, which are responsible for causing Charcot-Marie-Tooth disease type 4C. This test aids in confirming the diagnosis, differentiating CMT4C from other subtypes, and informing treatment and management plans.

Test Code
1562
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)
Step 1

Sample Collection

Genetic counseling is recommended before testing. Provide detailed clinical and family history.

Method: Venipuncture for Blood; Fingertip prick for FTA Card

Step 2

Laboratory Analysis

For blood sample, ensure proper venipuncture technique and use of appropriate collection tubes. For FTA card, apply blood spot and allow to air dry.

Step 3

Report Delivery

Label samples correctly and transport to the laboratory under recommended conditions. Follow up for report delivery.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide informed consent. Share detailed medical and family history.
2
During the Test:A blood sample or FTA card blood spot will be collected by a trained phlebotomist.
3
After the Test:Wait for the test report, which will be delivered in 3 to 4 weeks. Follow up with your healthcare provider for result interpretation.

About This Test

Who Should Get This Test

The purpose of the SH3TC2 Gene CMT4C NGS Genetic Test is to detect pathogenic mutations in the SH3TC2 gene, which are responsible for causing Charcot-Marie-Tooth disease type 4C. This test aids in confirming the diagnosis, differentiating CMT4C from other subtypes, and informing treatment and management plans.

How to Prepare

  • Use sterile equipment for blood collection
  • For blood, collect 2-5 ml in an EDTA tube
  • For FTA card, apply a drop of blood and air dry for at least 4 hours
  • Ensure patient identification on all samples

Doctor's Notes

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

"This NGS-based genetic test for SH3TC2 gene mutations is essential for diagnosing CMT4C, allowing for early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube for Blood; FTA Card for blood spot
Collection MethodVenipuncture for Blood; Fingertip prick for FTA Card

Sample Stability

Blood at room temperature: stable for 48 hours
Extracted DNA at -20°C: stable for years
FTA card at room temperature: stable for weeks
Sample Rejection Criteria:
  • Clotted or hemolyzed blood samples
  • Unlabeled or mislabeled samples
  • Insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results of the SH3TC2 Gene CMT4C NGS Genetic Test are interpreted in the context of the patient's clinical presentation and family history.
Positive: Pathogenic mutations detected in SH3TC2 gene, confirming CMT4C diagnosis.
Negative: No pathogenic mutations detected. Clinical correlation is advised if symptoms persist.
Variant of uncertain significance (VUS): Further testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if the test is positive, if symptoms worsen, or for family planning counseling. Even with negative results, seek medical advice if symptoms are present.

Limitations

  • ⚠May not detect large deletions or duplications in the SH3TC2 gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Variant of uncertain significance may be reported, necessitating further investigation

Risks & Considerations

  • ●Minimal risks associated with blood draw: bruising, soreness, or infection at the puncture site
  • ●No significant risks from the genetic test itself

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degradation of DNA due to improper storage
  • ●Hemolysis or clotted blood samples

Frequently Asked Questions

What is the SH3TC2 Gene CMT4C NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the SH3TC2 gene, which causes Charcot-Marie-Tooth disease type 4C.
Who should consider this test?
Individuals with symptoms of CMT4C, such as muscle weakness, sensory loss, and foot deformities, or those with a family history of the condition.
What are the common symptoms of CMT4C?
Symptoms include muscle weakness and wasting in feet and hands, difficulty walking, numbness, tingling, foot deformities, scoliosis, and hearing loss.
How is the test performed?
A blood sample or blood spot on an FTA card is collected and analyzed using Next Generation Sequencing (NGS) technology to identify SH3TC2 gene mutations.
What is the cost of the SH3TC2 Gene CMT4C NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, which includes sample collection, report generation, and a genetic counseling session.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India, making it convenient for patients nationwide.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered via online portal, email, or WhatsApp.
What do the test results mean?
Positive results confirm a diagnosis of CMT4C by detecting pathogenic SH3TC2 mutations. Negative results may require further clinical evaluation if symptoms persist, and variants of uncertain significance need clinical correlation.
Is genetic counseling necessary before and after the test?
Yes, genetic counseling is strongly recommended before testing for informed consent and after testing to understand the implications, inheritance pattern, and available management options.
Are there any risks associated with the test?
The test involves a simple blood draw with minimal risks such as bruising, mild soreness, or rare infection at the puncture site. There are no significant risks from the genetic analysis itself.
Is the test covered by insurance or government schemes?
Coverage depends on your insurance provider and policy terms. Government schemes like PMJAY, CGHS, ECHS, and ESIC may not cover this test. Contact your provider for specific details.
How can I book the SH3TC2 Gene CMT4C NGS Genetic Test?
You can book the test online through DNA Labs India's official website or contact their support team directly via phone or WhatsApp for assistance with scheduling.
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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