CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic Test
Short Name: CEP290 BBS14 NGS Test
Also known as: CEP290 gene mutation analysis, BBS14 genetic test, Bardet-Biedl Syndrome Type 14 NGS test, CEP290 gene sequencing
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 sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued in 3 to 4 weeks from sample receipt. Additional time may be required for variant confirmation, segregation studies, or unresolved variant classification.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect disease-causing variants in the CEP290 gene associated with Bardet-Biedl syndrome type 14. It helps confirm a clinical diagnosis, identify carriers in at-risk families, and provide information for recurrence-risk assessment and reproductive counselling.
- Test Code
- 3772
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally issued in 3 to 4 weeks from sample receipt. Additional time may be required for variant confirmation, segregation studies, or unresolved variant classification.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No fasting or special preparation is required. A genetic counselling session may be scheduled before the test. Please carry available clinical records, family history documents, and a valid doctor's prescription if available.
Method: Peripheral blood venepuncture or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect 2-3 ml of blood in an EDTA tube. Alternatively, an FTA card blood spot or already extracted DNA may be submitted. The collection procedure is quick and routine.
Report Delivery
You can resume normal activities immediately. If blood was collected, keep pressure on the site for a minute. The sample will be transported to the laboratory for processing.
Timeline: Reports are generally issued in 3 to 4 weeks from sample receipt. Additional time may be required for variant confirmation, segregation studies, or unresolved variant classification.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect disease-causing variants in the CEP290 gene associated with Bardet-Biedl syndrome type 14. It helps confirm a clinical diagnosis, identify carriers in at-risk families, and provide information for recurrence-risk assessment and reproductive counselling.
How to Prepare
- No fasting is required
- Carry a valid doctor's prescription or clinical history if available
- Inform the laboratory about any recent blood transfusion or bone marrow transplant
- For FTA card, allow the blood spot to air-dry completely before sealing in the pouch
- For extracted DNA, send the sample in a sterile DNase-free vial at 4°C or -20°C
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Bardet-Biedl syndrome can present with genital and renal anomalies along with visual and metabolic features. This genetic test helps confirm the underlying diagnosis and supports accurate recurrence-risk counselling and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Insufficient blood volume or FTA spot
- Sample received in an inappropriate container
- Unlabelled or incorrectly labelled sample
- Sample without clinical history or request form
Understanding Your Results
Pathogenic or likely pathogenic variant(s) detected
Provides strong evidence for a genetic diagnosis of Bardet-Biedl syndrome type 14 when consistent with the clinical phenotype and autosomal recessive inheritance.
Action: Clinical genetics consultation is recommended for management, family screening, and reproductive risk counselling.
Single pathogenic or likely pathogenic variant detected
In an autosomal recessive disorder, this may indicate carrier status. A diagnosis of BBS type 14 usually requires two disease-causing alleles.
Action: Further testing and segregation analysis in family members are recommended.
Variant of uncertain significance (VUS) detected
The variant cannot conclusively be classified as pathogenic or benign. It does not establish or exclude the diagnosis.
Action: Additional family segregation studies or complementary genetic testing may be advised.
No pathogenic variant detected
Reduces the likelihood of CEP290-related BBS type 14, but does not exclude all genetic forms of Bardet-Biedl syndrome.
Action: Consider a broader BBS multi-gene panel or whole exome sequencing if clinical suspicion remains high.
Consult a clinical geneticist or referring physician if the test identifies a pathogenic variant, likely pathogenic variant, or inconclusive result. Medical advice should also be sought for family member screening, recurrence risk, and reproductive options.
Limitations
- ⚠This targeted test analyses only the CEP290 gene; variants in other BBS genes will not be detected
- ⚠NGS may not reliably detect large deletions, duplications, or structural rearrangements unless specifically requested
- ⚠Deep intronic variants and other complex variants may not be covered by standard targeted NGS
- ⚠Some variants may be reported as variants of uncertain significance and may require additional family studies
- ⚠A negative result does not exclude Bardet-Biedl syndrome when clinical suspicion remains high
Risks & Considerations
- ●No significant physical risks are associated with blood sample collection
- ●Minor bruising, bleeding, or discomfort may occur at the venepuncture site
- ●Psychological impact from learning about a genetic diagnosis or carrier status
- ●Uncertainty due to variants of uncertain significance
- ●Privacy and confidentiality risks despite secure handling
Interfering Factors
- ●Recent allogeneic bone marrow transplant can affect blood-based DNA analysis
- ●Recent major blood transfusion may influence whole blood-derived DNA results
- ●Poor DNA quality or quantity can lead to incomplete sequencing
- ●Sample mix-up or contamination with another individual's DNA
Compare With Similar Tests
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| Comparison | CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic Test |
Frequently Asked Questions
What is the price of the CEP290 gene Bardet-Biedl syndrome type 14 NGS genetic test?
What sample type is needed for this test?
Is fasting required before giving the sample?
How long will the report take?
What is Bardet-Biedl syndrome?
Why is the CEP290 gene tested?
What is next-generation sequencing?
Can this test be used for carrier testing?
Does a negative result completely rule out Bardet-Biedl syndrome?
Will this test detect mutations in other BBS genes?
Do I need genetic counselling before the test?
How do I book this test with DNA Labs India?
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