SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test
Short Name: SIX5 NGS Test
Also known as: BOR Syndrome Type 2 NGS Test, SIX5 Gene Sequencing
SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop Blood on FTA Card samples. Results in Reports are typically available 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 NGS genetic test is to accurately detect pathogenic variants in the SIX5 gene that cause Branchiootorenal Syndrome Type 2. The test is indicated for individuals with clinical features suggestive of BOR syndrome, a family history of the condition, or for reproductive planning. It aids in confirming the diagnosis, guiding medical management, and enabling informed genetic counselling.
- Test Code
- 3775
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Patients should provide an accurate clinical history and family pedigree.
Method: Peripheral blood draw or dried blood spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. Minimal discomfort may be felt at the needle site.
Report Delivery
No restrictions. The sample is transported to the laboratory for analysis.
Timeline: Reports are typically available 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 NGS genetic test is to accurately detect pathogenic variants in the SIX5 gene that cause Branchiootorenal Syndrome Type 2. The test is indicated for individuals with clinical features suggestive of BOR syndrome, a family history of the condition, or for reproductive planning. It aids in confirming the diagnosis, guiding medical management, and enabling informed genetic counselling.
How to Prepare
- Use EDTA vacutainer or FTA card as per instruction.
- Ensure correct labelling of the sample with patient details.
- Transport the sample to the lab at appropriate temperature as advised.
- For FTA card, allow the blood spot to dry completely.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Branchiootorenal Syndrome assists in confirming diagnosis and guiding family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed blood sample
- Clotted sample in EDTA tube
- Insufficient blood volume
- Incorrectly labelled sample
Understanding Your Results
If you or a family member experience hearing loss, ear pits, branchial fistulas, renal anomalies, or have a family history of Branchiootorenal Syndrome, consult a clinical geneticist or ENT specialist for genetic testing.
Limitations
- ⚠This NGS test targets the SIX5 gene only and does not detect mutations in other BOR-associated genes like EYA1 or SIX1.
- ⚠Large deletion/duplication variants may not be detected by this NGS-based test.
- ⚠Deep intronic variants and epigenetic alterations are not covered.
- ⚠Variants of uncertain significance may be reported and require further analysis.
Risks & Considerations
- ●No significant medical risks associated with blood draw.
- ●Minor bleeding or bruising at the puncture site.
- ●Psychological impact of genetic results for some patients.
Interfering Factors
- ●PCR inhibitors in sample
- ●Low DNA concentration or quality
- ●Contamination of sample during collection or handling
Compare With Similar Tests
| Test | SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test | EYA1 Gene BOR Syndrome Type 1 NGS Test | SIX1 Gene BOR Syndrome NGS Test | Comprehensive BOR Gene Panel |
|---|---|---|---|---|
| Comparison | SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SIX5 Gene BOR Type 2 NGS Genetic Test?
What is Branchiootorenal Syndrome Type 2?
What are the symptoms of BOR Type 2?
How is the test performed?
What sample is needed for the test?
How long does it take to receive the report?
Do I need to fast before the test?
Is home sample collection available?
Who should take this test?
Will the test detect all genetic causes of BOR?
Does insurance cover this test?
What is the role of genetic counselling?
Related Tests
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
₹20,000SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
₹20,000Comprehensive Ear Nose Throat Panel NGS Genetic Test
₹20,000ATAC Sequencing
₹48,000PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
₹20,000IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 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.