OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic Test
Short Name: OAT Gene NGS Test
Also known as: Gyrate Atrophy Genetic Test, OAT Gene Mutation Test, Ornithine Aminotransferase Gene Sequencing
OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 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 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 this test is to confirm the diagnosis of gyrate atrophy of choroid and retina in individuals showing clinical features or a family history, identify pathogenic variants in the OAT gene, guide treatment and monitoring, and enable carrier detection and prenatal diagnosis in affected families.
- Test Code
- 3841
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counselling session to draw a pedigree chart of family members is recommended before the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample is collected from a vein; if using FTA card, a drop of blood is placed on the card.
Report Delivery
If a pathogenic variant is identified, genetic counselling to discuss implications for family members is advised.
Timeline: 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the diagnosis of gyrate atrophy of choroid and retina in individuals showing clinical features or a family history, identify pathogenic variants in the OAT gene, guide treatment and monitoring, and enable carrier detection and prenatal diagnosis in affected families.
How to Prepare
- A blood sample is collected in an EDTA vacutainer.
- Alternatively, a single drop of blood can be collected on an FTA card.
- Provide appropriate clinical history and pedigree chart.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing should always be accompanied by pre- and post-test genetic counselling. An obstetrician may recommend this test for carrier screening and reproductive planning in families affected by gyrate atrophy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood
- Incorrect container
- Mismatched sample requisition
- Time delay after collection
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
Confirms the diagnosis of Gyrate Atrophy. Genetic counselling recommended.
Variant of Uncertain Significance (VUS)
Clinical significance not established. Further family studies may be required.
No pathogenic variants detected
Does not exclude the diagnosis. Alternative causes should be considered.
Consult a clinical geneticist or ophthalmologist if you have symptoms of gyrate atrophy, a family history of the condition, or an abnormal ornithine level.
Limitations
- ⚠NGS may not detect deep intronic variants, large deletions, or repeat expansions
- ⚠Results may be inconclusive if a variant of uncertain significance is identified
- ⚠Diagnostic rate depends on clinical phenotype; other genes may be responsible
Risks & Considerations
- ●Minimal risk of bleeding or bruising at phlebotomy site
- ●Mild discomfort or dizziness during blood draw
Interfering Factors
- ●Insufficient DNA quantity
- ●Contamination during sample collection
- ●Errors in sample labelling
Frequently Asked Questions
What is the OAT Gene Gyrate Atrophy NGS Genetic Test?
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Why is this test done?
What are the symptoms of gyrate atrophy?
What sample is required for this test?
Do I need to fast before this test?
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What is the accuracy of NGS testing?
Will I receive the raw data files?
Is genetic counselling included?
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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.
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