BEST1 Gene Bestrophinopathy NGS Genetic Test
Short Name: BEST1 NGS
Also known as: BEST1 Gene Sequence Analysis, Bestrophinopathy Genetic Test, BEST1 Mutation Analysis, BEST1 Gene NGS Panel
BEST1 Gene Bestrophinopathy 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 available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The BEST1 Gene Bestrophinopathy NGS Genetic Test is a high-throughput sequencing assay designed to detect mutations in the BEST1 gene. It is intended to support clinical diagnosis, carrier screening, family planning, and genetic counselling of individuals suspected of bestrophinopathy.
- Test Code
- 3770
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. The patient should provide a complete clinical history and undergo genetic counselling prior to testing.
Method: Blood draw or FTA card sample
Laboratory Analysis
A blood sample is collected by venipuncture, or a few drops of blood are placed on an FTA card. Alternatively, extracted DNA can be submitted.
Report Delivery
No restrictions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The BEST1 Gene Bestrophinopathy NGS Genetic Test is a high-throughput sequencing assay designed to detect mutations in the BEST1 gene. It is intended to support clinical diagnosis, carrier screening, family planning, and genetic counselling of individuals suspected of bestrophinopathy.
How to Prepare
- Blood sample can be collected in an EDTA vacutainer.
- For FTA card, a few drops of blood are placed on the card and air-dried.
- Extracted DNA samples should be submitted in a sterile tube with proper labeling.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for BEST1 mutations is not just a diagnostic tool — it empowers families with crucial information about inheritance and recurrence risk. Early confirmation can lead to better surveillance and counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient quantity of sample
- Sample received after prolonged transport without appropriate temperature
- Contaminated or mislabeled sample
Understanding Your Results
Pathogenic variant detected
Confirms clinical diagnosis of bestrophinopathy. Genetic counselling is recommended.
Variant of uncertain significance (VUS)
Inconclusive. Additional testing of family members may be required.
No pathogenic variant detected
Bestrophinopathy molecular diagnosis cannot be confirmed. Other genetic causes should be considered.
If you have a family history of BEST1-related retinal disease or experience unexplained loss of central vision, photophobia, or colour vision disturbances, consult an ophthalmologist or clinical geneticist.
Risks & Considerations
- ●There is minimal physical risk from a blood draw, such as pain, bruising, or, rarely, infection.
Frequently Asked Questions
What is the cost of the BEST1 Gene Bestrophinopathy NGS Genetic Test?
What sample is required for this test?
Is fasting required?
How long do results take?
What does the test detect?
Who should undergo this test?
Is the test covered by insurance?
Do I need genetic counseling?
Can a normal result rule out bestrophinopathy?
How is the test performed?
Does DNA Labs India provide raw data?
Are home sample collection services available?
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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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