Skip to main content
DNA Labs India

RAB7A Gene CMT2B NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RAB7A Gene CMT2B NGS Genetic Test

Also known as: Charcot-Marie-Tooth disease type 2B, CMT2B, RAB7A-related CMT

RAB7A Gene CMT2B 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 detect pathogenic mutations in the RAB7A gene for accurate diagnosis of Charcot-Marie-Tooth disease type 2B (CMT2B), enabling genetic counseling, family planning, and informed clinical management.

Test Code
1550
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

Clinical history and genetic counseling required. A pedigree chart of family members should be prepared.

Method: Blood draw

Step 2

Laboratory Analysis

Standard blood draw procedure from a vein or use of FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store sample appropriately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are essential. Provide detailed medical and family history.
2
During the Test:A blood sample is collected for DNA extraction and NGS analysis of the RAB7A gene.
3
After the Test:Results are reviewed and interpreted by a geneticist. Genetic counseling is provided for understanding outcomes.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the RAB7A gene for accurate diagnosis of Charcot-Marie-Tooth disease type 2B (CMT2B), enabling genetic counseling, family planning, and informed clinical management.

How to Prepare

  • Provide clinical history of the patient
  • Undergo a genetic counseling session to draw a pedigree chart of family members affected with CMT2B

Doctor's Notes

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

"Early genetic diagnosis of CMT2B via RAB7A gene testing is crucial for accurate management, genetic counseling, and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RAB7A gene, which are associated with Charcot-Marie-Tooth disease type 2B.
📊

Positive for pathogenic variant

Consistent with diagnosis of CMT2B. Genetic counseling recommended.

📊

Negative

No pathogenic mutations detected. Clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

A genetic variant was found, but its clinical significance is unclear. Additional evaluation required.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms of CMT2B are present, such as muscle weakness or sensory loss, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variations
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Limited to RAB7A gene analysis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Frequently Asked Questions

What is the RAB7A Gene CMT2B NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the RAB7A gene to diagnose Charcot-Marie-Tooth disease type 2B (CMT2B), a hereditary neuropathy.
What are the symptoms of Charcot-Marie-Tooth disease type 2B (CMT2B)?
Symptoms include muscle weakness and wasting in the lower legs and feet, numbness or tingling, difficulty with balance, frequent falls, and pain or cramping, typically appearing in adolescence or early adulthood.
How is CMT2B diagnosed?
Diagnosis involves a physical examination, neurological evaluation, and genetic testing such as the RAB7A Gene CMT2B NGS Genetic Test to confirm mutations in the RAB7A gene.
What is the cost of the RAB7A Gene CMT2B NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes the test, counseling, and support services.
What sample type is required for this test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What does a positive test result indicate?
A positive result indicates the presence of a pathogenic mutation in the RAB7A gene, which is consistent with a diagnosis of CMT2B.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including children, especially if there are symptoms or family history.
Is genetic counseling included in the test cost?
Yes, the cost includes necessary counseling and support services to help interpret results and provide guidance.
What are the limitations of the RAB7A Gene CMT2B NGS Genetic Test?
Limitations include the possibility of not detecting all genetic variations, the need for clinical correlation, and focus only on the RAB7A gene.
How accurate is NGS technology for detecting RAB7A mutations?
NGS technology is highly accurate for detecting mutations in the RAB7A gene, providing reliable results for CMT2B diagnosis when performed by accredited labs like DNA Labs 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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.