EYA1 Gene Branchiootorenal Syndrome Type 1 NGS Genetic Test
Short Name: EYA1 BOR1 NGS Genetic Test
Also known as: BOR1 Genetic Test, Branchiootorenal Syndrome Type 1 NGS Test, EYA1 Mutation Analysis
EYA1 Gene Branchiootorenal 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 Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.. 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 identify disease-causing sequence variants in the EYA1 gene that are associated with Branchiootorenal Syndrome Type 1. It is designed to confirm or exclude a suspected clinical diagnosis, support reproductive decisions, and enable cascade testing of family members when a pathogenic variant is found.
- Test Code
- 3780
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Prior genetic counseling is strongly recommended to review family history, understand the purpose of the test, and provide informed consent. Please carry a valid ID and any available medical records.
Method: Venipuncture / FTA card blood spot
Laboratory Analysis
A small blood sample will be collected by venipuncture, or a blood spot may be placed on an FTA card. The procedure takes only a few minutes. You may feel slight discomfort at the puncture site.
Report Delivery
No specific precautions are needed after sample collection. You can resume normal activities immediately. The laboratory will send the report through the chosen delivery method once testing is complete.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing sequence variants in the EYA1 gene that are associated with Branchiootorenal Syndrome Type 1. It is designed to confirm or exclude a suspected clinical diagnosis, support reproductive decisions, and enable cascade testing of family members when a pathogenic variant is found.
How to Prepare
- Attend the genetic counseling session before testing
- Bring referral notes or test requisition from your physician
- Ensure the sample is labeled correctly
- For FTA card, allow the blood spot to dry completely before packing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive EYA1 result has important implications for family members and reproductive planning. Genetic counseling should be integrated into the testing pathway before and after the test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample without anticoagulant
- Insufficient sample quantity
- FTA card improperly dried or stored in a plastic bag while wet
- Missing informed consent or requisition form
Understanding Your Results
Pathogenic or likely pathogenic variant detected in EYA1
Consistent with a genetic diagnosis of Branchiootorenal Syndrome Type 1. Genetic counseling is recommended for the patient and at-risk family members.
No pathogenic variant detected in EYA1
No causative EYA1 mutation was identified by this NGS assay. Other genes or non-genetic causes should be considered if clinical suspicion remains.
Variant of uncertain significance (VUS) detected
The variant is not currently classified as pathogenic or benign. Additional family studies and further clinical evaluation may help clarify its significance.
Consult a clinical geneticist, nephrologist, ENT specialist, or obstetrician for genetic counseling if you or a family member has hearing loss, kidney abnormalities, preauricular pits, branchial cysts/fistulae, or a known family history of BOR1.
Limitations
- ⚠This NGS test is targeted to the EYA1 gene and does not sequence the entire genome or other BOR-related genes
- ⚠Large structural rearrangements, deep intronic variants, and some large deletions/duplications may not be reliably detected by standard NGS
- ⚠A negative result does not exclude a clinical diagnosis of BOR1 if the condition is due to another gene or a variant type not covered by this assay
- ⚠Interpretation requires correlation with clinical features and family history
Risks & Considerations
- ●No significant physical risk from a blood draw
- ●Minor bruising or discomfort at the needle site
- ●Psychological impact of test results
- ●Potential familial implications of genetic findings
Interfering Factors
- ●Poor DNA quality or quantity due to improper sample storage
- ●Contamination of sample with other biological material
- ●Sample mix-up or incorrect labeling
- ●Incomplete sequencing coverage of certain GC-rich exons
- ●Presence of a hematologic malignancy or prior bone marrow transplant causing mixed DNA profile
Frequently Asked Questions
What is Branchiootorenal Syndrome Type 1?
What does the EYA1 NGS genetic test detect?
Who should get the EYA1 gene test?
How is the sample collected for this genetic test?
Is fasting required before the EYA1 NGS genetic test?
What is the cost of the EYA1 gene Branchiootorenal Syndrome Type 1 NGS test at DNA Labs India?
How long will it take to get the NGS genetic test report?
What kind of results will I receive?
Can a negative EYA1 test rule out Branchiootorenal Syndrome Type 1?
Is genetic counseling needed before testing?
Does this test detect all types of genetic mutations?
Is home sample collection available for this test?
Related Tests
Amyloid Protein Identification Test
₹300,000CLCNKB Gene Bartter syndrome type 3 NGS Genetic Test
₹20,000SLC12A7 Gene Bartter syndrome NGS Genetic Test
₹20,000SLC12A5 Gene Bartter syndrome NGS Genetic Test
₹20,000SLC12A2 Gene Bartter syndrome NGS Genetic Test
₹20,000KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test
₹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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.