BBS7 Gene Bardet-Biedl syndrome type 7 NGS Genetic Test
Short Name: BBS7 Gene Test
Also known as: Bardet-Biedl syndrome type 7, BBS7
BBS7 Gene Bardet-Biedl syndrome type 7 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify mutations or alterations in the BBS7 gene for the diagnosis of Bardet-Biedl syndrome type 7, aiding in clinical management and genetic counselling.
- Test Code
- 5380
- 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)
Sample Collection
Provide clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with Bardet-Biedl syndrome.
Method: Venipuncture or FTA Card
Laboratory Analysis
Sample collected via venipuncture (blood draw) or using an FTA card for one drop of blood. Procedure is minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as per instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations or alterations in the BBS7 gene for the diagnosis of Bardet-Biedl syndrome type 7, aiding in clinical management and genetic counselling.
How to Prepare
- For blood sample: Use EDTA tube and store at ambient room temperature.
- For FTA card: Apply one drop of blood and air dry before packaging.
- Ensure proper labeling and documentation.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for BBS7 is essential for confirming diagnosis, informing family planning, and guiding multidisciplinary management of Bardet-Biedl syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Bardet-Biedl syndrome type 7. Genetic counselling recommended for family planning and management.
Likely pathogenic variant detected
Strong evidence for BBS7 diagnosis. Further clinical evaluation and family studies advised.
Variant of uncertain significance (VUS)
Variant significance unclear. Additional testing or family studies may be needed for clarification.
No pathogenic variant detected
BBS7 mutations not identified. Consider other genetic causes or clinical re-evaluation.
Consult a doctor if you or a family member exhibit symptoms such as obesity, vision loss, kidney issues, or extra digits, especially with a family history of Bardet-Biedl syndrome.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or duplications
- ⚠Variants of uncertain significance (VUS) may require further investigation
- ⚠Does not rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection or transport
- ●Insufficient DNA quantity
Frequently Asked Questions
What is the BBS7 Gene Test?
What is Bardet-Biedl syndrome type 7?
What are the symptoms of BBS7?
How is the test performed?
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Is home sample collection available?
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What sample is required for the test?
Is fasting required before the test?
Who should take this test?
What do the results mean?
Is genetic counselling provided?
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