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BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test

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BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test

Short Name: BBS1 Gene BBS Type 1 NGS Test

Also known as: BBS1 Gene Test, Bardet-Biedl Syndrome Type 1 Genetic Test

BBS1 Gene Bardet-Biedl syndrome type 1 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) Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Bardet-Biedl Syndrome Type 1 by identifying mutations in the BBS1 gene using next-generation sequencing technology.

Test Code
5369
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Bardet-Biedl Syndrome.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedure.

Step 3

Report Delivery

Apply pressure to the collection site and keep it clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history review and genetic counseling.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Sample processing and analysis in the laboratory.

About This Test

Who Should Get This Test

To diagnose Bardet-Biedl Syndrome Type 1 by identifying mutations in the BBS1 gene using next-generation sequencing technology.

How to Prepare

  • Provide clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling

Doctor's Notes

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

"This test is crucial for diagnosing Bardet-Biedl Syndrome and guiding management, especially in families with a history of genetic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the BBS1 gene.
Positive: Pathogenic variant detected, confirming diagnosis of BBS Type 1
Negative: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of Bardet-Biedl Syndrome are present or there is a family history of the disorder.

Limitations

  • May not detect all mutations in the BBS1 gene
  • Limited to known variants in the coding region

Risks & Considerations

  • Standard blood draw risks such as bruising or infection
  • Minimal risk from FTA card collection

Frequently Asked Questions

What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome is a rare genetic disorder that affects multiple body systems, including vision, kidneys, and metabolism.
What causes Bardet-Biedl Syndrome?
It is caused by mutations in genes such as BBS1, inherited in an autosomal recessive pattern.
What are the symptoms of BBS Type 1?
Symptoms include obesity, retinal degeneration, kidney abnormalities, polydactyly, intellectual disability, and hypogonadism.
How is BBS diagnosed?
Diagnosis is based on clinical features and confirmed by genetic testing, such as the BBS1 Gene NGS Genetic Test.
What is the BBS1 Gene NGS Genetic Test?
It is a diagnostic test that uses next-generation sequencing to analyze the BBS1 gene for mutations.
How is the test performed?
The test involves collecting a blood sample or DNA extract and analyzing it using NGS technology.
What is the cost of the test?
The cost in India is approximately INR 20,000.
Is the test covered by insurance?
It may not be covered by insurance; check with your provider for details.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What should I do before the test?
Provide clinical history and attend a genetic counseling session.
Are there any risks associated with the test?
Risks are minimal, similar to standard blood draws.
Where can I get this test done?
The test is available across India with free home sample collection for online bookings.
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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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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