GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test
Short Name: GJA8 NGS Test
Also known as: GJA8 Gene Mutation Analysis, Cataract Microcornea Syndrome Genetic Test, Hereditary Cataract Genetic Test
GJA8 Gene Cataract-Microcornea Syndrome 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 after the sample is received by 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 identify clinically significant pathogenic variants in the GJA8 gene to confirm or rule out a genetic diagnosis of cataract-microcornea syndrome, support targeted management, guide familial testing, and enable informed reproductive counselling.
- Test Code
- 3797
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation, no fasting required. Please carry the referral note, previous ophthalmological records, and relevant family history details. Genetic counselling is recommended before testing where possible.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A qualified phlebotomist will draw a small volume of blood into an EDTA tube. If using FTA card, a single drop of blood is placed on the labeled card. The collection is quick and usually painless.
Report Delivery
No post-test restrictions. The collected sample is sent to the laboratory for NGS analysis. Results will be shared in 3 to 4 weeks through the online portal, email, or WhatsApp.
Timeline: 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify clinically significant pathogenic variants in the GJA8 gene to confirm or rule out a genetic diagnosis of cataract-microcornea syndrome, support targeted management, guide familial testing, and enable informed reproductive counselling.
How to Prepare
- Collect 2-3 mL venous blood in an EDTA vacutainer or as instructed by the lab
- If using FTA card, apply one drop of blood to the labeled area and air dry
- Store sample at 2-8°C until transportation; avoid haemolysis or freezing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For patients with a personal or family history of congenital cataract and microcornea, genetic testing should be combined with a comprehensive ophthalmological examination. Results should always be discussed with a genetic counsellor before making reproductive or clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Inadequate sample volume
- Incorrectly labelled or unlabeled sample
- FTA card with insufficient blood spots
- Sample exposed to extreme temperature or reagent contamination
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was detected in the GJA8 gene. This supports a diagnosis of GJA8-related cataract-microcornea syndrome and enables targeted family testing.
Negative
No clinically significant variant was found in the GJA8 gene. Other genetic and non-genetic causes should be considered by the treating clinician.
Variant of Uncertain Significance
A DNA variant was found whose effect on GJA8 function is not yet known. Additional family studies and clinical correlation are required.
Consult a clinical geneticist or ophthalmologist if the patient has congenital or childhood cataract with microcornea, a positive family history of GJA8-related disease, or if the test report shows a pathogenic variant or a variant of uncertain significance.
Limitations
- ⚠This test only analyses the GJA8 gene; variants in other genes will not be detected
- ⚠NGS may not detect deep intronic variants, large structural rearrangements, repeat expansions, or regions with low coverage
- ⚠A negative result does not exclude a non-genetic cause of cataract-microcornea syndrome
- ⚠Variants of uncertain significance may require additional family studies and clinical correlation
- ⚠Clinical interpretation should be performed by a clinical geneticist with ophthalmological correlation
Risks & Considerations
- ●Mild discomfort or bruising at the blood collection site
- ●No significant medical risks from the genetic test itself
- ●Possible psychological impact of genetic results
- ●Privacy concerns related to genetic information
Interfering Factors
- ●Contaminated or degraded DNA may reduce test success
- ●Recent blood transfusion may cause mixed DNA results
- ●Sample mix-up or mislabelling can affect result validity
- ●Variants of uncertain significance may require family segregation studies
- ●Large deletions, duplications, or structural rearrangements may not be detected by targeted NGS
Compare With Similar Tests
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| Comparison | GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test?
What sample is required for this test?
How long does it take to get the report?
Does this test detect all genetic causes of cataract-microcornea syndrome?
Is fasting required before blood collection?
Will a positive result confirm my diagnosis?
What is a variant of uncertain significance?
Can family members be tested?
Does insurance cover this genetic test?
Why is genetic counselling important for this test?
Can I get raw data files with my report?
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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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✓ 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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