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BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test

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BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test

Short Name: BBS5 NGS Genetic Test

Also known as: Bardet-Biedl Syndrome Type 5 Genetic Test, BBS5 Gene Mutation Test

BBS5 Gene Bardet-Biedl syndrome type 5 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 (NGS)All 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 BBS5 gene for diagnosis of Bardet-Biedl Syndrome Type 5, confirm clinical suspicion, guide treatment, and provide genetic counseling.

Test Code
5382
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 during genetic counseling.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick onto FTA card. Minimal discomfort.

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:Genetic counseling to discuss implications, family history, and consent. No fasting required.
2
During the Test:Blood sample collection takes a few minutes. Sample sent to lab for NGS analysis.
3
After the Test:Results available in 3-4 weeks. Genetic counseling recommended for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the BBS5 gene for diagnosis of Bardet-Biedl Syndrome Type 5, confirm clinical suspicion, guide treatment, and provide genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature
  • Avoid hemolysis during collection

Doctor's Notes

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

"Genetic testing for BBS5 is essential for early diagnosis and management of Bardet-Biedl Syndrome, helping guide 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 Volume3-5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the BBS5 gene. Positive results confirm BBS Type 5 diagnosis, while negative results may require further testing or clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Bardet-Biedl Syndrome Type 5. Genetic counseling recommended.

📊

Negative for pathogenic variants

BBS5 mutations not detected. Consider other BBS genes or clinical reassessment.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult genetic counselor.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms suggestive of BBS are present, or if family history indicates risk. Follow-up after positive results for management planning.

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 (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples
  • ●Recent blood transfusions

Compare With Similar Tests

TestBBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic TestBBS1 Gene TestBBS Gene PanelWhole Exome SequencingKaryotyping
ComparisonBBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test

Frequently Asked Questions

What is the BBS5 Gene Bardet-Biedl Syndrome Type 5 NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the BBS5 gene for mutations to diagnose Bardet-Biedl Syndrome Type 5.
What are the symptoms of Bardet-Biedl Syndrome Type 5?
Common symptoms include vision loss, hearing problems, kidney dysfunction, obesity, extra fingers or toes, and delayed puberty.
How is Bardet-Biedl Syndrome Type 5 diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing like this NGS test to confirm BBS5 gene mutations.
What is the cost of the BBS5 Gene Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
Some insurance plans may cover genetic testing for BBS, but coverage varies. Check with your provider.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test detect all BBS mutations?
This test specifically targets the BBS5 gene. For comprehensive diagnosis, a multi-gene panel may be recommended.
What should I do if the test is positive?
Consult a geneticist for counseling, management plans, and family screening.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting pathogenic variants, but results should be interpreted with clinical correlation.
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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