PLA2G5 Gene Fleck Retina, Familial Benign NGS Genetic Test
Short Name: PLA2G5 Fleck Retina NGS
Also known as: PLA2G5 Gene Test, Fleck Retina Genetic Test, Familial Benign Fleck Retina NGS Panel
PLA2G5 Gene Fleck Retina, Familial Benign 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 delivered within 3 to 4 weeks after the sample is received at the lab.. 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 primary purpose of this test is to confirm a clinical suspicion of familial benign fleck retina by identifying a pathogenic mutation in the PLA2G5 gene. It also helps to differentiate this condition from other retinal dystrophies, determine the mode of inheritance, and assess the risk of recurrence in family members. Genetic counseling is an integral part of the testing process to support informed medical and reproductive decisions.
- Test Code
- 3826
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample is received at the lab.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Please complete the clinical history form and attend a genetic counseling session to draw a family pedigree.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Venipuncture will be performed to collect 2 ml blood in an EDTA tube. For FTA card, a single drop of blood is applied to the card.
Report Delivery
No post-sample collection restrictions apply. The patient can resume normal activities.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received at the lab.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical suspicion of familial benign fleck retina by identifying a pathogenic mutation in the PLA2G5 gene. It also helps to differentiate this condition from other retinal dystrophies, determine the mode of inheritance, and assess the risk of recurrence in family members. Genetic counseling is an integral part of the testing process to support informed medical and reproductive decisions.
How to Prepare
- Fill all patient details and clinical indication on the form
- Informed consent must be provided
- Ensure correct labeling of the specimen
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for familial benign fleck retina can provide clarity for affected families and enable informed reproductive choices. I recommend genetic counseling before and after the test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Incorrect tube
- Sample leaking
- Unlabeled or mislabeled sample
- Sample not reaching lab within 48 hours
Understanding Your Results
Pathogenic variant detected
The presence of a pathogenic variant confirms the clinical diagnosis of familial benign fleck retina. Genetic counseling and family screening are recommended.
Likely pathogenic variant detected
The variant is highly suspected to cause disease. Clinical correlation and family co-segregation analysis are advised.
No pathogenic variant detected
A negative result does not exclude a genetic cause. Other genes may be involved. Further genetic testing or gene panel may be considered.
Variant of uncertain significance
The variant's clinical significance is unknown. Additional testing of family members and further scientific evidence are required to clarify its role.
Consult your referring physician or genetic counselor if your test result is positive or inconclusive to discuss management options and family implications.
Limitations
- ⚠This test is limited to the PLA2G5 gene and does not detect mutations in other genes associated with retinal disorders.
- ⚠Large gene rearrangements may not be detected by NGS sequencing alone.
- ⚠Variants of uncertain clinical significance may be reported; further family studies may be required.
- ⚠Not intended for prenatal diagnosis.
Risks & Considerations
- ●Bruising at venipuncture site
- ●Slight pain or discomfort
- ●Infection (rare)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination from another individual
- ●Recent blood transfusion (may affect DNA testing)
- ●Inaccurate patient identification
Frequently Asked Questions
What is the PLA2G5 gene?
What is familial benign fleck retina?
What symptoms should prompt testing?
How is the test performed?
What is the cost of the test?
How long does it take to get the report?
Is fasting required before the test?
Will I receive raw data files?
Can this test detect other genetic eye disorders?
What does a positive test result mean?
What does a negative test result mean?
Is genetic counseling 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.
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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