CRYBA4 Gene Cataract Type 23 NGS Genetic Test
Short Name: CRYBA4 Cataract 23 NGS
Also known as: CRYBA4 Gene Mutation Test, Cataract Type 23 Genetic Testing, CRYBA4 Sequencing Test
CRYBA4 Gene Cataract Type 23 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 sample receipt. A genetic counselor may contact you toward the end of this period.. 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 is to identify pathogenic variants in the CRYBA4 gene associated with Cataract Type 23. This test may confirm a clinical diagnosis, clarify inheritance, guide reproductive planning, and enable screening of at-risk relatives.
- Test Code
- 3782
- 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 sample receipt. A genetic counselor may contact you toward the end of this period.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is performed before the test to review family history and obtain informed consent. If using FTA card, ensure the card is dry and sealed.
Method: Venipuncture / Finger-prick blood spot
Laboratory Analysis
For blood collection, a small volume of venous blood is drawn into an EDTA tube. For FTA card, one drop of blood from a finger-prick is applied.
Report Delivery
Apply pressure on the puncture site for a few minutes. No specific restriction is needed after collection.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt. A genetic counselor may contact you toward the end of this period.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose is to identify pathogenic variants in the CRYBA4 gene associated with Cataract Type 23. This test may confirm a clinical diagnosis, clarify inheritance, guide reproductive planning, and enable screening of at-risk relatives.
How to Prepare
- No fasting is required.
- Please carry a valid government ID for verification.
- If you are having home collection, a technician will visit with the appropriate blood collection kit.
- For FTA card sample collection, follow the trainer's instructions and let the blood spot dry completely.
- Ensure the sample is properly labeled with name and date before shipment.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Inherited cataract can present early in life and may be mistaken for other causes. An accurate genetic diagnosis helps families understand recurrence risk, plan pregnancies, and monitor affected members. This test should be ordered alongside comprehensive ophthalmological evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labeled sample
- Clotted blood in EDTA tube
- Serum sample (not suitable for DNA testing)
- Insufficient DNA quantity/quality
Understanding Your Results
Positive (pathogenic variant identified)
Confirms a genetic diagnosis of Cataract Type 23 and informs autosomal dominant inheritance and family cascade testing.
Negative (no pathogenic variant identified)
Does not rule out a hereditary cause; other genes or non-genetic causes should be considered.
Variant of uncertain significance (VUS)
A DNA change was found but its effect on protein is not yet defined. Genetic counseling and family testing are advised.
If you or your child have blurry vision, clouding of the lens, poor night vision, or a first-degree relative with cataract type 23, consult an ophthalmologist and ask about genetic assessment.
Limitations
- ⚠Targeted testing covers only the CRYBA4 gene; other cataract-causing genes will not be evaluated
- ⚠Regulatory regions and deep intronic variants may not be detected by standard NGS
- ⚠A negative result does not exclude a hereditary cause due to unknown variants
- ⚠Variant of uncertain significance may require familial segregation studies to clarify pathogenicity
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the blood draw site
- ●Rare possibility of vasovagal reaction
- ●Psychological impact of test results – counseling available
Interfering Factors
- ●Sample contamination with microbial DNA
- ●Degraded DNA from improper storage or transport
- ●PCR inhibitors in blood samples may reduce sequencing quality
- ●Errors if the test is requested without appropriate genetic counseling context
Compare With Similar Tests
| Test | CRYBA4 Gene Cataract Type 23 NGS Genetic Test | CRYBA4 Targeted NGS | Hereditary Cataract Panel (NGS) |
|---|---|---|---|
| Comparison | CRYBA4 Gene Cataract Type 23 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the CRYBA4 Gene Cataract Type 23 NGS Genetic Test in India?
What does the CRYBA4 gene test detect?
Do I need to fast before the test?
What is Cataract Type 23?
Who should take this test?
Which sample is needed for the test?
How long does it take to get the results?
Is home sample collection available?
What does an autosomal dominant pattern mean?
Can a negative result completely rule out genetic cataract?
Why is genetic counseling recommended?
Is the test covered by insurance or government schemes?
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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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