CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 NGS Genetic Test
Short Name: CRYAA Cataract NGS
Also known as: Autosomal recessive congenital cataract type 1, CRYAA-related congenital cataract, CCA1, Congenital cataract type 1
CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 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 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 NGS genetic test is to detect mutations in the CRYAA gene that are associated with autosomal recessive congenital type 1 cataract. It provides molecular evidence to confirm the diagnosis, support clinical management, and inform family counselling and recurrence risk.
- Test Code
- 3799
- CPT Code
- Not specified
- ICD Code
- Q12.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended before sample collection to document family history and draw a pedigree chart. A signed consent form and test requisition form should accompany the sample.
Method: Venepuncture / FTA card blood spot / DNA submission
Laboratory Analysis
For blood, a small sample is drawn into an EDTA vacutainer. For FTA card, a few drops of blood are placed on the printed circles and allowed to air dry. Extracted DNA may be submitted in a labelled vial.
Report Delivery
You may resume normal activities immediately. Keep the lab reference number for tracking. The report will be shared after 3 to 4 weeks through the selected delivery mode.
Timeline: Reports are issued in 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 NGS genetic test is to detect mutations in the CRYAA gene that are associated with autosomal recessive congenital type 1 cataract. It provides molecular evidence to confirm the diagnosis, support clinical management, and inform family counselling and recurrence risk.
How to Prepare
- No fasting is required for this DNA test.
- Ensure the sample vial or FTA card is labelled with the patient's name and ID.
- Submit the signed consent form and a genetic counselling referral or pedigree chart.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In families with an affected child, accurate recurrence risk estimation is essential. A confirmed CRYAA mutation allows parents to understand the chance of recurrence in future pregnancies and plan prenatal/preimplantation genetic diagnosis if desired."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mismatched sample
- Clotted or haemolysed blood sample
- Insufficient sample quantity
- Sample without signed consent or genetic counselling form
Understanding Your Results
Pathogenic or likely pathogenic variant in CRYAA
Confirms molecular diagnosis of CRYAA-related autosomal recessive congenital type 1 cataract.
No pathogenic variant detected
No CRYAA mutation was found; other genetic or non-genetic causes should be considered.
Variant of uncertain significance
The variant cannot yet be confidently classified; additional family studies and clinicopathological correlation are required.
Consult a paediatric ophthalmologist or a clinical geneticist if a child has bilateral congenital cataract, unexplained lens opacity in infancy, or a family history of inherited cataract. Genetic counselling is recommended before and after this test.
Limitations
- ⚠This test analyses only the CRYAA gene and does not definitively exclude other genetic causes of congenital cataract.
- ⚠Large structural variants or deep intronic mutations may not be detected by routine NGS.
- ⚠A variant of uncertain significance may require additional family testing.
- ⚠Results should be interpreted with ophthalmological examination and genetic counselling.
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Rare bleeding or infection at the puncture site
- ●Possible psychological impact of a genetic diagnosis
- ●Incidental genetic findings may require further counselling
Interfering Factors
- ●Sample degradation or contamination
- ●PCR inhibitors due to improper storage
- ●Mislabelled or mixed-up samples
- ●Low DNA concentration or quality
Compare With Similar Tests
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| Comparison | CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 NGS Genetic Test |
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