YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation NGS Genetic Test
Short Name: YAP1 Coloboma NGS
Also known as: YAP1 Gene Coloboma NGS Genetic Test, Ocular coloboma YAP1 gene test, Coloboma with hearing loss and cleft lip/palate genetic test
YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation 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 receipt of sample at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic variants in the YAP1 gene in individuals with clinical features suggestive of ocular coloboma with or without hearing impairment, cleft lip/palate, or intellectual disability. It helps confirm diagnosis, guide clinical management, and support genetic counselling of the family. This test is not intended for screening healthy individuals without a medical indication.
- Test Code
- 3808
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from receipt of sample at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. A genetic counselling session is recommended before testing to draw a pedigree chart and review the clinical history of the patient. Please share any family history of coloboma, hearing loss, cleft lip/palate, or intellectual disability with the referring physician.
Method: Peripheral blood draw or FTA card blood spot collection
Laboratory Analysis
A trained phlebotomist will collect the blood sample or prepare an FTA card blood spot. The procedure takes only a few minutes and is usually painless.
Report Delivery
There are no activity restrictions. You can resume normal diet and daily activities immediately after sample collection.
Timeline: 3 to 4 weeks from receipt of sample at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the YAP1 gene in individuals with clinical features suggestive of ocular coloboma with or without hearing impairment, cleft lip/palate, or intellectual disability. It helps confirm diagnosis, guide clinical management, and support genetic counselling of the family. This test is not intended for screening healthy individuals without a medical indication.
How to Prepare
- No fasting required
- Sample can be collected at room temperature
- FTA card blood spot is accepted
- Carry any previous relevant medical reports
- Inform the lab about any blood transfusion or bone marrow transplant in the last 3 months
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"A genetic finding should always be interpreted with clinical findings. In a suspected YAP1-related syndrome, a confirmed pathogenic variant helps to clarify recurrence risk and enables screening of at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled sample
- Clotted or hemolyzed sample when DNA extraction is not possible
- Sample leaking in transit
- Recent allogeneic blood transfusion or bone marrow transplant may cause incorrect results
Understanding Your Results
Pathogenic variant detected
Positive for YAP1-related disorder; genetic counselling and family testing are advised.
No pathogenic variant detected
Negative result; clinical diagnosis may still be considered based on symptoms; consider broader testing if clinical suspicion remains high.
Variant of uncertain significance (VUS)
Insufficient evidence to classify the variant; consult genetics team for further evaluation.
Consult your doctor or genetic counsellor if the test result is positive, if a variant of uncertain significance is reported, or if you have any questions about the risk of inheritance. Also seek advice if symptoms develop despite a negative result.
Limitations
- ⚠NGS may not detect large structural rearrangements, repeat expansions, or deep intronic variants unless specifically analyzed
- ⚠A negative result does not exclude all genetic causes of coloboma
- ⚠Variants of uncertain significance may not provide a definitive clinical answer
- ⚠Testing should be interpreted by a clinical geneticist in the context of clinical findings
Risks & Considerations
- ●Blood draw may cause minor pain, bruising, or bleeding at the puncture site
- ●FTA card collection is minimally invasive
- ●No serious complications are expected
Interfering Factors
- ●Recent blood transfusion or bone marrow transplant can contaminate DNA results
- ●Insufficient DNA quality or quantity can cause test failure
- ●Very low-level mosaicism may not be detected by NGS
- ●Variant classification may be uncertain in some cases
Frequently Asked Questions
What is YAP1 gene coloboma?
What symptoms are seen in YAP1 gene coloboma?
How is YAP1 gene coloboma diagnosed?
What is NGS genetic test for YAP1?
Why use NGS for this test?
What sample is required for the YAP1 gene coloboma test?
Do I need fasting for this YAP1 gene test?
How long will the YAP1 NGS test report take?
How much does the YAP1 gene coloboma NGS test cost in India?
Will I get raw data and VCF files with the report?
What does a positive YAP1 genetic test mean?
What does a negative result mean?
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