MAF Gene Cataract, Pulverulent or Cerulean, with or without Microcornea NGS Genetic Test
Short Name: MAF Gene Cataract NGS
Also known as: MAF-associated cataract, Pulverulent cerulean cataract with microcornea, Congenital cataract with microcornea, MAF-related lens opacity
MAF Gene Cataract, Pulverulent or Cerulean, with or without Microcornea 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 Samples are processed after receipt. Reports are generally available in 3 to 4 weeks. Raw data files and the clinical report are shared together.. 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 pathogenic variants in the MAF gene associated with pulverulent or cerulean cataract, with or without microcornea. It supports clinical diagnosis, helps guide surgical planning, and provides information for genetic counselling and family risk assessment.
- Test Code
- 3798
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Samples are processed after receipt. Reports are generally available in 3 to 4 weeks. Raw data files and the clinical report are shared together.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Keep the test requisition form and clinical notes ready. Inform the laboratory about any previous genetic testing in the family. A genetic counselling session to draw a pedigree chart may be required before the sample is taken.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A blood sample is collected from a vein or one drop of blood is placed on an FTA card. The procedure is quick and causes minimal discomfort.
Report Delivery
No special precautions are needed after sample collection. The sample will be sent to the laboratory for NGS analysis. The report will be shared using the chosen delivery option, along with raw data files.
Timeline: Samples are processed after receipt. Reports are generally available in 3 to 4 weeks. Raw data files and the clinical report are shared together.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the MAF gene associated with pulverulent or cerulean cataract, with or without microcornea. It supports clinical diagnosis, helps guide surgical planning, and provides information for genetic counselling and family risk assessment.
How to Prepare
- Patient identity must be verified before collection.
- Blood: 2-3 mL in EDTA vacutainer under aseptic conditions.
- FTA card: One drop of blood applied to the designated circles and air dried.
- Label the sample with patient name, UID, and collection date/time.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"During preconception and antenatal counselling, a history of congenital cataract in the family should prompt evaluation for genetic causes. In couples with a family history of MAF-associated cataract, genetic counselling can clarify recurrence risk and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, hemolyzed, or severely lipemic blood
- Insufficient sample volume
- Mislabeled or unlabeled sample
- Sample leaked or broken in transit
- EDTA sample received after 4 days without temperature maintenance
Understanding Your Results
Positive
A pathogenic or likely pathogenic MAF variant was found. This supports the diagnosis of MAF gene cataract.
Negative
No clinically significant MAF variant was detected. Other genetic causes of cataract should be considered.
Variant of uncertain significance
A variant was found, but its clinical significance is unclear. Additional family studies may be needed.
Consult an ophthalmologist if you notice blurred vision, night vision difficulty, glare, double vision, or a white or grayish pupil in a child. If a genetic cause is suspected, ask for a referral to a clinical geneticist.
Limitations
- ⚠This test evaluates MAF gene sequence variants only and does not assess other cataract-associated genes.
- ⚠Large genomic rearrangements may not be detected by standard NGS.
- ⚠Regulatory or non-coding variants may be missed.
- ⚠A negative result does not exclude a genetic cause in another gene.
- ⚠Interpretation should always be done in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or discomfort at the blood collection site.
- ●FTA card blood spot collection has no needle-related risk.
- ●No genetic test is entirely perfect; variant interpretation may need follow-up.
Interfering Factors
- ●Poor quality or insufficient DNA
- ●Sample contamination with maternal blood
- ●Incomplete coverage of the MAF gene
- ●Large deletions or duplications not reliably detected by standard NGS
- ●Variant of uncertain significance requiring family segregation analysis
Frequently Asked Questions
What is MAF Gene Cataract?
What symptoms are associated with MAF gene cataract?
How is MAF gene cataract diagnosed?
What is the cost of this NGS genetic test in India?
What sample is needed for the test?
Do I need to fast before the test?
How long does it take to get the report?
What is next-generation sequencing (NGS)?
Does this test detect microcornea?
Who should take this test?
Is home sample collection available?
What do the test results mean?
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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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