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BBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test

Short Name: BBS12 Gene Test

Also known as: Bardet-Biedl Syndrome Type 12 Genetic Test, BBS12 Mutation Analysis, BBS12 NGS Test

BBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

Next-Generation Sequencing🏠 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

To detect mutations in the BBS12 gene for diagnosis of Bardet-Biedl Syndrome Type 12, enabling early management and genetic counseling.

Test Code
5373
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein or saliva collected using a kit. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and genetic counseling session to draw a pedigree chart.
2
During the Test:Sample collection via blood draw or saliva. Sent to lab for NGS analysis.
3
After the Test:Results available in 3-4 weeks. Genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the BBS12 gene for diagnosis of Bardet-Biedl Syndrome Type 12, enabling early management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for BBS12 mutations is crucial for timely management of symptoms, preventing complications, and informed 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 required
ContainerEDTA tube or FTA card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood: 7 days at 2-8°C
DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the BBS12 gene. Positive results confirm diagnosis; negative results may require further testing.
📊

Positive for pathogenic variant

Confirms Bardet-Biedl Syndrome Type 12. Consult genetic counselor for management.

📊

Negative

No pathogenic variants detected. Clinical correlation and other tests may be needed.

📊

Variant of uncertain significance

Further evaluation and family studies recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider if symptoms persist, for family planning, or after receiving test results for guidance.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minor bruising or discomfort from blood draw
  • ●Psychological impact of results
  • ●No significant physical risks

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestBBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic TestBBS Gene PanelWhole Exome SequencingSanger Sequencing
ComparisonBBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test

Frequently Asked Questions

What is BBS12 Gene Bardet-Biedl Syndrome Type 12?
It is a rare genetic disorder caused by mutations in the BBS12 gene, leading to symptoms like obesity, vision loss, and kidney issues.
What are the common symptoms of BBS12?
Symptoms include obesity, retinal degeneration, polydactyly, hypogonadism, kidney abnormalities, and cognitive impairment.
How is BBS12 diagnosed?
Diagnosis is through genetic testing, specifically NGS of the BBS12 gene from a blood or saliva sample.
What is the cost of the BBS12 genetic test?
The cost is INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms mutations in the BBS12 gene, indicating Bardet-Biedl Syndrome Type 12. Genetic counseling is recommended.
Can Bardet-Biedl Syndrome Type 12 be treated?
There is no cure, but symptoms can be managed with early diagnosis and multidisciplinary care.
Is genetic testing necessary for family members?
Yes, especially for those with a family history, to assess risk and guide family planning.
What are the risks of the genetic test?
Risks are minimal, such as minor discomfort from blood draw. Psychological support may be needed for results.
How accurate is the NGS test for BBS12?
NGS is highly accurate for detecting mutations, but may not identify all types of genetic changes.
Where can I get the BBS12 genetic test done?
At DNA Labs India, with services available in multiple cities across India. Contact us for details.
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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