CRYAB Gene Cataract, Posterior Polar Type 2 NGS Genetic Test
Short Name: CRYAB Gene Cataract NGS Test
Also known as: CRYAB-related cataract
CRYAB Gene Cataract, Posterior Polar Type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To confirm a clinical diagnosis of posterior polar cataract type 2 due to CRYAB gene mutations, identify carriers within families, and assist in reproductive and surgical decision-making.
- Test Code
- 3793
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No special preparation such as fasting is required. The patient should carry a clinical history and a family pedigree. Genetic counseling is recommended prior to the test.
Laboratory Analysis
A peripheral blood sample will be drawn in an EDTA vacutainer, or one drop of blood will be spotted on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No post-procedure precautions are needed. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical diagnosis of posterior polar cataract type 2 due to CRYAB gene mutations, identify carriers within families, and assist in reproductive and surgical decision-making.
How to Prepare
- Patients should provide a valid doctor's prescription or referral.
- Ensure that the patient's name and date of birth are correctly written on the sample label.
- For blood draw, use an EDTA tube and mix gently.
- For FTA card, apply one drop of blood onto the marked circles and air dry completely.
- Do not refrigerate the FTA card at any time.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic confirmation of a CRYAB mutation guides ophthalmic management, including appropriate timing of cataract surgery and enables targeted family screening to prevent avoidable visual disability."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample in EDTA tube
- Insufficient quantity of blood or DNA
- Improperly labeled sample
- Sample received in a non-EDTA tube
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of CRYAB-related posterior polar cataract. Inheritance is expected to be autosomal dominant.
Likely pathogenic variant detected
Strongly suggests the diagnosis. Additional familial segregation analysis may be recommended.
Variant of uncertain significance (VUS)
The clinical significance is currently unknown. Further evidence such as family studies or functional studies may be required.
No pathogenic variant detected
Does not rule out a genetic cause. Mutations in other cataract genes or non-genetic factors may be responsible.
If you or a family member experience painless progressive vision loss, central lens opacity, or if there is a known family history of inherited cataract, consult an ophthalmologist or a clinical geneticist for evaluation and genetic testing.
Limitations
- ⚠NGS may not detect all large genomic rearrangements, repeat expansions, or deep intronic mutations.
- ⚠A negative result does not exclude mutations in other genes causing cataract.
- ⚠Variant of uncertain significance may require further family segregation studies.
Risks & Considerations
- ●Minimal pain or bruising at the blood draw site
- ●Rare risk of local infection
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential future implications for family members
Interfering Factors
- ●DNA contamination from other individuals
- ●Poor quality or degraded DNA from improper sample storage
- ●Presence of large deletions or duplications not detectable by NGS
Frequently Asked Questions
What is the CRYAB gene?
What does this genetic test diagnose?
What sample types are accepted?
Is fasting required for this test?
How long does the test report take?
What is the price of the test?
Is home sample collection available?
Do I need to undergo genetic counseling?
Can children undergo this test?
How will I receive the report?
Does this test detect all hereditary cataracts?
Is this test covered by health insurance?
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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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