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GARS1 Gene CMT2D NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GARS1 Gene CMT2D NGS Genetic Test

Short Name: GARS1 CMT2D Test

Also known as: Charcot-Marie-Tooth disease type 2D, GARS1 neuropathy, CMT2D, Hereditary motor and sensory neuropathy type 2D

GARS1 Gene CMT2D 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 confirm a diagnosis of Charcot-Marie-Tooth disease type 2D (CMT2D) caused by mutations in the GARS1 gene, facilitating targeted management and genetic counseling.

Test Code
1557
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test implications and provide detailed clinical and family history.
2
During the Test:A blood sample is drawn and sent to the lab for NGS analysis of the GARS1 gene.
3
After the Test:Results are reviewed with a healthcare provider, and a genetic counseling session may follow for interpretation and next steps.

About This Test

Who Should Get This Test

To confirm a diagnosis of Charcot-Marie-Tooth disease type 2D (CMT2D) caused by mutations in the GARS1 gene, facilitating targeted management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature unless specified

Doctor's Notes

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

"Early genetic testing for CMT2D is crucial for accurate diagnosis, management planning, and family counseling to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or missing patient information
  • Sample not stored at recommended conditions

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GARS1 gene associated with CMT2D. A positive result confirms diagnosis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of CMT2D; genetic counseling recommended for family members.

📊

Negative for pathogenic variants

CMT2D unlikely based on GARS1 gene; consider other genetic or clinical causes.

📊

Variant of uncertain significance (VUS)

Requires further testing and clinical correlation; genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if experiencing symptoms of CMT2D, such as muscle weakness, tingling, or balance issues, or if there is a family history of the disease.

Limitations

  • ⚠Does not detect all possible genetic variants or epigenetic factors
  • ⚠Results require clinical correlation with patient history and symptoms
  • ⚠May not identify variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Insufficient sample volume

Compare With Similar Tests

TestGARS1 Gene CMT2D NGS Genetic TestPMP22 Gene TestMPZ Gene TestMFN2 Gene Test
ComparisonGARS1 Gene CMT2D NGS Genetic Test

Frequently Asked Questions

What is the GARS1 Gene CMT2D NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the GARS1 gene, confirming diagnosis of Charcot-Marie-Tooth disease type 2D (CMT2D).
Who should consider this test?
Individuals with symptoms like muscle weakness, tingling, or balance issues, or those with a family history of CMT or similar neuropathies.
What are the common symptoms of CMT2D?
Symptoms include muscle weakness in feet and legs, numbness, difficulty walking, foot drop, high arches, and fine motor skill problems.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to sequence the GARS1 gene for pathogenic variants.
What is the cost of the test in India?
The test costs INR 20,000, with free home sample collection available in major cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Some insurance plans may cover genetic testing; check with your provider. DNA Labs India offers competitive pricing.
What sample type is required?
Blood, extracted DNA, or a drop of blood on an FTA card can be used for the test.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive result mean?
A positive result confirms the presence of a GARS1 gene mutation, indicating CMT2D, which guides treatment and genetic counseling.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight pain or bruising. Genetic counseling helps address emotional and familial implications.
How should I prepare for the test?
No special preparation is needed. Attend a genetic counseling session to provide clinical history and understand the test process.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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