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BBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test

Short Name: BBS2 Gene Test

Also known as: Bardet-Biedl Syndrome Type 2 Genetic Test, BBS2 Gene Sequencing, BBS2 NGS Test

BBS2 Gene Bardet-Biedl syndrome type 2 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the BBS2 gene for accurate diagnosis of Bardet-Biedl Syndrome Type 2, enabling personalized management, genetic counseling, and family screening.

Test Code
5378
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

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site. Sample sent to lab for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain consent, and document family history.
2
During the Test:Blood sample collection; no invasive procedures beyond venipuncture.
3
After the Test:Results available in 3-4 weeks; follow-up with genetic counselor or physician for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the BBS2 gene for accurate diagnosis of Bardet-Biedl Syndrome Type 2, enabling personalized management, genetic counseling, and family screening.

How to Prepare

  • Ensure patient identification and consent
  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for BBS2 is crucial for timely management, family planning, and addressing multi-system complications in affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of mutations in the BBS2 gene. Positive findings confirm BBS2 diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Bardet-Biedl Syndrome Type 2. Genetic counseling recommended.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed for clarification.

📊

No pathogenic variant detected

BBS2 mutation not identified; consider other genetic causes or clinical evaluation.

⚠️ When to Consult a Doctor:

If symptoms of BBS2 are present, such as obesity with vision loss, kidney issues, or polydactyly, or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestBBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic TestBBS1 Gene TestBBS10 Gene TestWhole Exome SequencingCiliopathy Gene Panel
ComparisonBBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Bardet-Biedl Syndrome Type 2?
BBS2 is a rare genetic disorder caused by mutations in the BBS2 gene, leading to symptoms like obesity, vision loss, kidney dysfunction, and extra digits.
How is BBS2 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS sequencing of the BBS2 gene from a blood sample.
What does the BBS2 Gene Test involve?
The test uses Next Generation Sequencing to analyze the BBS2 gene for mutations, requiring a blood or DNA sample.
What is the cost of the BBS2 Gene Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the BBS2 Gene Test.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What are the symptoms of BBS2?
Common symptoms include central obesity, progressive vision loss, kidney problems, polydactyly, learning disabilities, and behavioral issues.
Who should consider this test?
Individuals with symptoms of BBS2 or a family history of Bardet-Biedl Syndrome should consider genetic testing.
What if the test result is positive?
A positive result confirms BBS2 diagnosis, enabling appropriate management, genetic counseling, and family screening.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing to discuss implications and results.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising; psychological support is available through counseling.
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

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.

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