AGK Gene Cataract, Autosomal Recessive Type 38 NGS Genetic Test
Short Name: AGK Gene Cataract AR38 NGS
Also known as: AGK Gene Cataract AR38 NGS Test, Autosomal Recessive Cataract Type 38 Genetic Test, AGK Mutation Analysis
AGK Gene Cataract, Autosomal Recessive Type 38 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 issued within 3-4 weeks from the date the sample is received at 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 test is to detect pathogenic variants in the AGK gene that cause autosomal recessive cataract type 38. It supports the clinical diagnosis of inherited cataracts and enables appropriate genetic counselling and family planning decisions.
- Test Code
- 3789
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3-4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Patients are advised to attend a genetic counselling session before the test to draw a pedigree and understand the test's scope and limitations. No fasting is required.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample is collected via venipuncture. Alternatively, a few drops of blood are collected on an FTA card for drying.
Report Delivery
No special precautions are needed. The sample is sent to the laboratory for NGS analysis.
Timeline: Reports are issued within 3-4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the AGK gene that cause autosomal recessive cataract type 38. It supports the clinical diagnosis of inherited cataracts and enables appropriate genetic counselling and family planning decisions.
How to Prepare
- No prior special preparation is required.
- A genetic counselling session is recommended before the test to assess family history.
- Inform your doctor about any medications or supplements you are taking.
- The sample can be collected at home; please schedule on your convenient date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The AGK gene related cataract typically follows an autosomal recessive pattern. It is important for families to understand the recurrence risk, and genetic testing can guide future reproductive decisions. I recommend that patients receive pre- and post-test genetic counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood specimen
- Insufficient quantity of sample
- Incorrect labeling or missing patient details
- Sample forwarded without proper clinical history
Understanding Your Results
Pathogenic variant detected (homozygous or compound heterozygous)
Confirms molecular diagnosis of AGK-related cataract type 38.
Single likely pathogenic variant detected
Indicates carrier status; may be significant if combined with another variant on the opposite allele.
No pathogenic variant detected
Reduced likelihood of AGK-associated cataract; other genetic or environmental causes should be considered.
Variant of uncertain significance (VUS) detected
Functional studies or family segregation analysis may be required to determine pathogenicity.
If you notice any visual symptoms, especially in a child, or have a family history of early-onset cataracts, consult an ophthalmologist and a clinical geneticist for further evaluation.
Limitations
- ⚠NGS covers coding regions and splice junctions; deep intronic variants may not be detected.
- ⚠Large structural variants or copy number changes may require complementary analysis.
- ⚠A negative result does not exclude non-genetic causes of cataracts.
- ⚠Variant interpretation requires clinical correlation and may be revised as new knowledge emerges.
Risks & Considerations
- ●Mild pain or bruising at the phlebotomy site
- ●Rare possibility of sample collection-related infection
- ●Potential psychological stress from unexpected genetic findings
Interfering Factors
- ●Sample degradation due to improper transport
- ●Poor DNA quality or quantity
- ●PCR inhibitors in the sample
- ●Inadvertent contamination during processing
Frequently Asked Questions
What is the cost of the AGK Gene Cataract Autosomal Recessive Type 38 NGS Genetic Test?
What sample is required for this NGS genetic test?
Is fasting required before the test?
What is the turnaround time for test results?
What is AGK gene-related cataract type 38?
Who should consider taking this test?
How is the test performed?
What does a positive result indicate?
What does a negative result indicate?
Does this test detect all cataract-causing genes?
Is genetic counselling provided along with the test?
How can I book the AGK Gene Cataract NGS test?
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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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