CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test
Short Name: CEP290 BBS14 NGS Genetic Test
Also known as: BBS14, Bardet-Biedl syndrome type 14, CEP290-related Bardet-Biedl syndrome
CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to confirm a diagnosis of Bardet-Biedl syndrome type 14 by identifying mutations in the CEP290 gene, guide clinical management, facilitate genetic counseling for families, and enable carrier detection for reproductive planning.
- Test Code
- 5375
- 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), Sanger Confirmation
Sample Collection
No specific preparation required. Ensure genetic counseling is arranged prior to testing.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture or a saliva sample using a provided kit.
Report Delivery
Apply pressure to the puncture site. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a diagnosis of Bardet-Biedl syndrome type 14 by identifying mutations in the CEP290 gene, guide clinical management, facilitate genetic counseling for families, and enable carrier detection for reproductive planning.
How to Prepare
- Use sterile collection tubes
- Label samples correctly with patient details
- Transport at ambient temperature unless specified
- Avoid hemolysis during blood collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CEP290 mutations in suspected Bardet-Biedl syndrome cases is crucial for timely intervention, genetic counseling, and family planning. This NGS test offers high accuracy for detecting pathogenic variants."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect labeling
- Expired collection tubes
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Bardet-Biedl syndrome type 14. Genetic counseling recommended.
Likely pathogenic variant detected
Strong evidence for BBS14. Clinical correlation and family testing advised.
Variant of uncertain significance (VUS)
Insufficient evidence for pathogenicity. Repeat testing or family studies may be needed.
No pathogenic variant detected
BBS14 unlikely, but other genetic causes may exist. Consider additional tests.
Consult a geneticist or specialist if symptoms of Bardet-Biedl syndrome are present, for result interpretation, or for family planning after a positive test.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions/duplications)
- ⚠Results require clinical correlation
- ⚠Cannot predict disease severity or onset
- ⚠Variants of uncertain significance (VUS) may be identified
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Psychological impact of results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test | Whole Exome Sequencing | Bardet-Biedl Syndrome Gene Panel | Sanger Sequencing for CEP290 |
|---|---|---|---|---|
| Comparison | CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test |
Frequently Asked Questions
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₹20,000Reference 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.
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✓ 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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