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BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic Test

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BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic Test

Short Name: BBS4 NGS Genetic Test

Also known as: BBS4 Gene Mutation Test, Bardet-Biedl Syndrome Type 4 NGS Test

BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Bardet-Biedl Syndrome type 4 by detecting pathogenic mutations in the BBS4 gene using NGS technology.

Test Code
5377
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history and genetic counseling session recommended.

Method: Venipuncture for blood or use of FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and counseling.

About This Test

Who Should Get This Test

To diagnose Bardet-Biedl Syndrome type 4 by detecting pathogenic mutations in the BBS4 gene using NGS technology.

How to Prepare

  • Ensure proper labeling
  • Avoid hemolysis for blood samples

Doctor's Notes

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

"Early genetic testing for BBS4 can guide management of renal complications and improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Collection MethodVenipuncture for blood or use of FTA card

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at ambient temperature
Sample Rejection Criteria:
  • Insufficient sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the BBS4 gene associated with Bardet-Biedl Syndrome type 4.
Positive result: Mutation detected, confirms diagnosis
Negative result: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Requires further testing
⚠️ When to Consult a Doctor:

If symptoms of BBS are present or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires interpretation by a geneticist

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of genetic results

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination

Frequently Asked Questions

What is Bardet-Biedl Syndrome type 4?
Bardet-Biedl Syndrome type 4 is a rare genetic disorder caused by mutations in the BBS4 gene, characterized by obesity, vision loss, kidney abnormalities, and other symptoms.
What are the symptoms of BBS type 4?
Symptoms include obesity, retinitis pigmentosa (vision loss), kidney abnormalities, learning difficulties, delayed speech development, and polydactyly (extra fingers or toes).
How is BBS type 4 diagnosed?
Diagnosis is confirmed through genetic testing, such as the BBS4 Gene NGS Genetic Test, which detects mutations in the BBS4 gene.
What does the BBS4 Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze DNA from blood or other samples for mutations in the BBS4 gene.
What is the cost of the test?
The cost is INR 20,000, which includes the test, counseling, and support services.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What should I do before the test?
A clinical history review and genetic counseling session are recommended prior to testing.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the BBS4 gene; positive results confirm diagnosis, while negative results require clinical correlation.
Can this test be used for family planning?
Yes, genetic counseling based on test results can inform family planning decisions.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered, so check with your insurer.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, but interpretation should be done by a qualified geneticist.
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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