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HSPB1 Gene CMT2F NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HSPB1 Gene CMT2F NGS Genetic Test

Short Name: CMT2F Genetic Test

Also known as: HSPB1 Gene Test for CMT2F, Charcot-Marie-Tooth Type 2F Genetic Test

HSPB1 Gene CMT2F 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 from sample receipt.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAdolescents and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the HSPB1 gene for diagnosis of Charcot-Marie-Tooth disease type 2F (CMT2F).

Test Code
1553
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture for blood or provided FTA card for blood drop

Step 2

Laboratory Analysis

Sample collection via venipuncture or using FTA card for blood drop.

Step 3

Report Delivery

Sample is sent to the lab for NGS analysis. Results are reported in 3-4 weeks.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and implications of testing.
2
During the Test:A blood sample is collected, typically from a vein in the arm.
3
After the Test:Results are analyzed and a report is generated, which may include raw data files.

About This Test

Who Should Get This Test

To detect mutations in the HSPB1 gene for diagnosis of Charcot-Marie-Tooth disease type 2F (CMT2F).

How to Prepare

  • Ensure proper sample labeling.
  • Follow standard phlebotomy procedures.
  • For FTA card, use one drop of blood as per instructions.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for HSPB1 mutations is crucial for accurate diagnosis of CMT2F, enabling personalized management 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
Collection MethodVenipuncture for blood or provided FTA card for blood drop
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample.
  • Incorrect sample type or container.

Understanding Your Results

Results indicate whether pathogenic mutations in the HSPB1 gene are detected. A positive result confirms CMT2F, while a negative result may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of CMT2F. Genetic counseling recommended.

📊

Negative for pathogenic variant

CMT2F unlikely, but clinical correlation needed.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If you experience symptoms of peripheral neuropathy such as muscle weakness, numbness, or difficulty walking, consult a neurologist for evaluation.

Limitations

  • ⚠May not detect all types of mutations in the HSPB1 gene.
  • ⚠Results should be correlated with clinical findings.

Frequently Asked Questions

What is the HSPB1 Gene CMT2F NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the HSPB1 gene, which cause Charcot-Marie-Tooth disease type 2F.
Who should consider this test?
Individuals with symptoms of CMT2F such as muscle weakness in the feet, numbness, or a family history of the disease.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the HSPB1 gene.
What are the symptoms of CMT2F?
Symptoms include muscle weakness and wasting in the feet and lower legs, numbness, tingling, difficulty walking, and foot deformities like high arches or hammertoes.
How is CMT2F diagnosed?
Through physical examination, nerve conduction studies, and genetic testing to identify HSPB1 gene mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do positive results mean?
A positive result indicates a pathogenic mutation in the HSPB1 gene, confirming CMT2F diagnosis.
Are there any risks to the test?
The test involves a standard blood draw, which has minimal risks such as bruising or infection at the site.
How should I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling before testing.
Where can I get this test done?
DNA Labs India offers this test with home collection in numerous cities across India, including Mumbai, Delhi, Bangalore, and more.
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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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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