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SBF2 Gene CMT4B2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SBF2 Gene CMT4B2 NGS Genetic Test

Short Name: SBF2 CMT4B2 Test

Also known as: CMT4B2 Test, SBF2 Mutation Test

SBF2 Gene CMT4B2 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the SBF2 Gene CMT4B2 NGS Genetic Test is to confirm a diagnosis of CMT4B2 by detecting mutations in the SBF2 gene, assist in differential diagnosis, guide management strategies, and facilitate genetic counseling for affected individuals and families.

Test Code
1558
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

Provide clinical history and family pedigree as per genetic counseling. No specific preparation required unless advised.

Method: Venipuncture or FTA Card collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile techniques or FTA card collection for home kits.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test implications and provide informed consent.
2
During the Test:Sample collection followed by NGS analysis in the laboratory.
3
After the Test:Receive results with genetic counseling for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the SBF2 Gene CMT4B2 NGS Genetic Test is to confirm a diagnosis of CMT4B2 by detecting mutations in the SBF2 gene, assist in differential diagnosis, guide management strategies, and facilitate genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use aseptic technique for blood draw
  • Label samples accurately with patient details
  • For FTA cards, follow instructions for blood spotting

Doctor's Notes

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

"Genetic testing is essential for early diagnosis and management of CMT4B2, enabling personalized treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card collection

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA Card: stable for months at room temperature if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Incorrectly labeled or insufficient samples
  • Expired sample containers

Understanding Your Results

Results indicate the presence or absence of mutations in the SBF2 gene. Interpretation should be done by a genetic counselor or healthcare provider in clinical context.
Normal: No pathogenic variants detected - low risk of CMT4B2
Pathogenic variant detected - confirms diagnosis of CMT4B2
Variant of Uncertain Significance (VUS) - requires further evaluation
Likely Pathogenic variant - high likelihood of disease association
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms like progressive muscle weakness or numbness are present, or if genetic test results are positive or uncertain.

Limitations

  • ⚠Cannot detect all genetic mutations in the SBF2 gene
  • ⚠Results may require confirmatory testing in some cases
  • ⚠Does not predict disease severity or progression

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for inconclusive results

Interfering Factors

  • ●Degraded or contaminated DNA samples
  • ●Insufficient sample volume
  • ●Recent blood transfusions may affect DNA quality

Compare With Similar Tests

TestSBF2 Gene CMT4B2 NGS Genetic TestPMP22 Gene CMT1A TestMPZ Gene CMT1B Test
ComparisonSBF2 Gene CMT4B2 NGS Genetic TestDifferent gene and disease subtype; more common form of CMTFocuses on a different gene associated with CMT type 1B

Frequently Asked Questions

What is the SBF2 Gene CMT4B2 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the SBF2 gene, which causes Charcot-Marie-Tooth disease type 4B2.
Who should consider getting this test?
Individuals with symptoms of peripheral neuropathy, family history of CMT, or suspected CMT4B2 based on clinical evaluation.
What are the common symptoms of CMT4B2?
Symptoms include muscle weakness in legs, numbness in extremities, difficulty walking, hammertoes, high arches, and scoliosis.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to sequence the SBF2 gene for mutations.
What is the cost of the SBF2 Gene CMT4B2 NGS Genetic Test?
The cost is INR 20,000, which includes testing, result interpretation, and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic variants in the SBF2 gene are detected, confirming or ruling out CMT4B2 diagnosis.
Are there any risks associated with the test?
Risks are minimal, such as slight bruising from blood draw, but genetic results may have psychological implications.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires specialized genetic counseling and different sample types.
Is the test covered by insurance or government schemes?
Coverage varies; it is not typically covered by schemes like PMJAY or CGHS, but check with your insurance provider.
How can I prepare for the test?
No special preparation is needed. Ensure to provide clinical history and attend genetic counseling if required.
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

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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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