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KIF1B Gene CMT2A1 NGS Genetic Test

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KIF1B Gene CMT2A1 NGS Genetic Test

Short Name: CMT2A1 Genetic Test

Also known as: KIF1B Gene CMT2A1 Test, CMT2A1 NGS Test

KIF1B Gene CMT2A1 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the KIF1B gene for definitive diagnosis of Charcot-Marie-Tooth disease type 2A1 (CMT2A1).

Test Code
1556
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

Genetic counseling session recommended to draw a pedigree chart of affected family members. Provide clinical history of patient.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Sample collected via blood draw or DNA extraction. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment. No fasting required.
2
During the Test:Blood sample or DNA extraction performed by trained personnel.
3
After the Test:Results analyzed in lab; report generated with genetic findings.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the KIF1B gene for definitive diagnosis of Charcot-Marie-Tooth disease type 2A1 (CMT2A1).

How to Prepare

  • Ensure patient is hydrated for blood collection.
  • Use sterile equipment for sample collection.
  • Label sample correctly with patient details.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for CMT2A1 aids in accurate diagnosis, family planning, and personalized management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or DNA extraction

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in KIF1B gene. Positive result confirms CMT2A1 diagnosis; negative result may require further testing.
📊

Positive

Pathogenic mutation detected, confirming CMT2A1 diagnosis.

📊

Negative

No pathogenic mutation detected; clinical correlation advised.

📊

Variant of Uncertain Significance

Genetic variant found; significance unknown, may require family studies.

⚠️ When to Consult a Doctor:

If experiencing symptoms of CMT2A1 such as progressive muscle weakness, numbness, or foot deformities, or if family history suggests hereditary neuropathy.

Limitations

  • ⚠Test only detects mutations in KIF1B gene; other CMT subtypes require different tests.
  • ⚠May not identify all genetic variants due to technical limitations.

Risks & Considerations

  • ●Minimal risks from blood draw: pain, bruising, infection.
  • ●Psychological impact of genetic diagnosis.

Frequently Asked Questions

What is the KIF1B Gene CMT2A1 NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the KIF1B gene associated with Charcot-Marie-Tooth disease type 2A1.
What is the cost of this test?
The test costs INR 20000, with free home sample collection available across India.
What are the symptoms of CMT2A1?
Symptoms include muscle weakness in feet and hands, numbness or tingling, balance difficulties, foot deformities, and fine motor skill issues.
How is CMT2A1 diagnosed?
Diagnosis involves clinical evaluation, nerve conduction studies, and genetic testing to confirm mutations in the KIF1B gene.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Who should consider this genetic test?
Individuals with symptoms of CMT2A1, a family history of the disease, or those diagnosed with hereditary neuropathy.
What does a positive test result mean?
A positive result confirms a pathogenic mutation in the KIF1B gene, diagnosing CMT2A1 and guiding treatment and genetic counseling.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications, draw a family pedigree chart, and discuss results.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw such as pain or bruising. Psychological impact of genetic diagnosis is possible.
How accurate is the KIF1B Gene CMT2A1 NGS Genetic Test?
The test uses advanced NGS technology for high accuracy in detecting mutations, but limitations exist for certain genetic variants.
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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