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DNA Labs India

BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test

Short Name: BBS9 Gene Test

Also known as: BBS9 Genetic Test, Bardet-Biedl Syndrome Type 9 DNA Test, BBS9 NGS Test

BBS9 Gene Bardet-Biedl syndrome type 9 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 detect mutations in the BBS9 gene for the diagnosis of Bardet-Biedl Syndrome Type 9, aiding in clinical management, genetic counseling, and family planning.

Test Code
2575
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications, family history, and consent.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Standard blood draw procedure or FTA card collection as per laboratory instructions.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling appointment to discuss the test, its implications, and family history.
2
During the Test:A blood sample or FTA card will be collected by a trained phlebotomist at home or in a clinic.
3
After the Test:Wait for 3-4 weeks for results. Follow-up with a genetic counselor or physician for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the BBS9 gene for the diagnosis of Bardet-Biedl Syndrome Type 9, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment
  • Avoid hemolysis during blood draw
  • Follow FTA card instructions if applicable

Doctor's Notes

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

"Genetic testing for BBS9 is essential for confirming diagnosis, understanding recurrence risks, and guiding management strategies for affected individuals and families."

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 blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood in EDTA: stable for 48 hours at room temperature
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results from the BBS9 Gene NGS Test indicate the presence or absence of genetic variants associated with Bardet-Biedl Syndrome Type 9.
📊

Pathogenic variant detected

Confirms diagnosis of BBS Type 9. Genetic counseling recommended for family planning and management.

📊

No pathogenic variant detected

BBS Type 9 unlikely, but clinical correlation needed. Consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance

Further testing, family studies, or functional assays may be required for clarification.

⚠️ When to Consult a Doctor:

If you or your family member exhibits symptoms of Bardet-Biedl Syndrome, such as vision problems, obesity, extra digits, or kidney issues, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Variants of uncertain significance may be reported
  • ⚠Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestBBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic TestBBS1 Gene TestBardet-Biedl Syndrome Comprehensive Gene PanelCiliopathy Genetic Test PanelWhole Exome Sequencing
ComparisonBBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test

Frequently Asked Questions

What is Bardet-Biedl Syndrome Type 9?
Bardet-Biedl Syndrome Type 9 is a rare genetic disorder caused by mutations in the BBS9 gene, leading to symptoms such as obesity, retinal degeneration, polydactyly, kidney abnormalities, learning difficulties, and hypogonadism.
What does the BBS9 Gene Test detect?
The test detects mutations or variants in the BBS9 gene using next-generation sequencing (NGS) technology, which can confirm a diagnosis of Bardet-Biedl Syndrome Type 9.
Who should consider this test?
Individuals with symptoms of BBS, such as vision loss, obesity, extra digits, or kidney issues, and those with a family history of the syndrome should consider this test.
How is the test performed?
The test is performed on a blood sample, extracted DNA, or a drop of blood on an FTA card, analyzed using NGS technology in a laboratory.
What is the cost of the test?
The cost of the BBS9 Gene NGS Genetic Test in India is INR 20,000, with free home sample collection available in many cities.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the time the sample is received by the laboratory.
What do the results mean?
Results indicate the presence or absence of pathogenic variants in the BBS9 gene. A positive result confirms BBS Type 9, while a negative result may require further testing.
Is genetic counseling required?
Genetic counseling is strongly recommended before and after testing to discuss implications, family planning, and psychological support.
Can the test be done for prenatal diagnosis?
Prenatal testing may be possible through methods like chorionic villus sampling or amniocentesis, but consultation with a genetic specialist is necessary.
What are the symptoms of BBS Type 9?
Symptoms include obesity, retinal degeneration, polydactyly, kidney abnormalities, learning difficulties, and hypogonadism, with variable severity.
How accurate is the NGS Genetic Test?
The NGS Genetic Test is highly accurate and sensitive for detecting mutations in the BBS9 gene, but it may not identify all types of genetic variations.
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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