EYA1 Gene Branchiootic syndrome type 1 NGS Genetic Test
Short Name: EYA1 BOS1 NGS Test
Also known as: BOS1 Genetic Test, EYA1 Mutation Analysis, Branchiootic Syndrome DNA Test
EYA1 Gene Branchiootic syndrome type 1 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 Results typically available within 3 to 4 weeks from sample receipt.. 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 the EYA1 Gene Branchiootic Syndrome Type 1 NGS Genetic Test is to identify mutations in the EYA1 gene to confirm a diagnosis of BOS1, differentiate it from other related disorders, inform genetic counseling, and guide appropriate medical management for affected individuals and their families.
- Test Code
- 2284
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results typically available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Consult with a genetic counselor for pre-test counseling. Inform the lab about any medications, recent transfusions, or medical history.
Method: Venipuncture or finger prick
Laboratory Analysis
A standard blood draw or finger prick is performed by a trained phlebotomist using sterile equipment.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Keep the area clean and dry.
Timeline: Results typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EYA1 Gene Branchiootic Syndrome Type 1 NGS Genetic Test is to identify mutations in the EYA1 gene to confirm a diagnosis of BOS1, differentiate it from other related disorders, inform genetic counseling, and guide appropriate medical management for affected individuals and their families.
How to Prepare
- Ensure proper patient identification and labeling of samples
- Use appropriate collection tubes (EDTA for blood or FTA card)
- Avoid hemolysis by gentle mixing of blood samples
- Store samples at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for EYA1 is vital for early diagnosis of Branchiootic Syndrome Type 1, enabling timely management of hearing loss and associated structural abnormalities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Incorrect labeling or mismatched patient information
- Sample contaminated or improperly stored
Understanding Your Results
Consult a genetic counselor or ENT specialist if test results are positive, if symptoms persist, or for guidance on management and family screening.
Limitations
- ⚠May not detect large genomic rearrangements or deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may be identified
- ⚠Does not exclude other genetic causes of similar symptoms
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very low risk of infection or fainting
- ●Psychological impact of genetic test results
Interfering Factors
- ●Poor sample quality or contamination
- ●Previous blood transfusions within the last 4 weeks
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | EYA1 Gene Branchiootic syndrome type 1 NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | EYA1 Gene Branchiootic syndrome type 1 NGS Genetic Test | Targeted but less comprehensive than NGS for full gene analysis. | Essential for symptom assessment but cannot confirm genetic cause. | Identifies structural abnormalities but not genetic mutations. | Evaluates hearing loss but does not diagnose underlying genetic condition. |
Frequently Asked Questions
What is Branchiootic Syndrome Type 1 (BOS1)?
What causes BOS1?
How is BOS1 diagnosed?
What is the EYA1 Gene NGS Genetic Test?
Who should consider this genetic test?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
Are there any risks associated with the test?
Can the test detect all mutations in the EYA1 gene?
What if the test result is uncertain?
How do I prepare for the test?
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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.
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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