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CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test

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CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test

Short Name: CRYBB1 Cataract Type 17 NGS

Also known as: Beta-Crystallin B1 Gene Cataract Test, CRYBB1 Mutation NGS Analysis, Hereditary Cataract Type 17 Genetic Test

CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing, Sanger sequencing confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally provided within 21 to 28 days from the time the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the CRYBB1 gene that are associated with cataract type 17. This helps confirm a genetic diagnosis, offers a basis for family testing, and contributes to informed reproductive and surgical planning.

Test Code
3787
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally provided within 21 to 28 days from the time the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing, Sanger sequencing confirmation
Step 1

Sample Collection

No fasting is required. Bring a valid photo ID and any available ophthalmology records. A genetic counseling session to draw a pedigree chart is recommended before testing. Please share the clinical summary with the referring doctor.

Method: Venous blood collection or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist. If FTA card is used, one drop of blood is placed on the card and allowed to dry. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

The sample is sent to the laboratory in the provided transport container. You can resume normal activities immediately. Reports are expected in 3 to 4 weeks and will be explained by the referring doctor or genetic counselor.

Timeline: Reports are generally provided within 21 to 28 days from the time the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Carry valid identification and ophthalmology records. A genetic counseling session to draw a pedigree chart is recommended before the test.
2
During the Test:A small blood sample will be collected by a trained phlebotomist. For FTA card testing, one drop of blood is placed on a specially designed card and allowed to dry.
3
After the Test:The sample is sent to the laboratory; results are expected in 3 to 4 weeks. The referring doctor or genetic counselor will explain the result and its significance.

About This Test

Who Should Get This Test

To identify pathogenic variants in the CRYBB1 gene that are associated with cataract type 17. This helps confirm a genetic diagnosis, offers a basis for family testing, and contributes to informed reproductive and surgical planning.

How to Prepare

  • No fasting required
  • Valid ID required
  • Complete consent and clinical information form before sample collection
  • Wear loose sleeves for easy blood collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"A confirmed CRYBB1 variant can explain the hereditary basis of early-onset cataract. Genetic counseling before and after testing is important for understanding recurrence risk and for offering targeted screening to family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL peripheral blood / 1 blood spot on FTA card / 1 µg extracted DNA
ContainerEDTA vacutainer (lavender top) or FTA card
Collection MethodVenous blood collection or FTA card blood spot

Sample Stability

Whole blood (EDTA): up to 72 hours at room temperature
Whole blood (EDTA): up to 7 days at 2-8°C
FTA card: stable at room temperature when air dried
Extracted DNA: stable at -20°C or lower
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample without matching requisition/consent
  • FTA card that remains damp or contaminated
  • Sample received in heparin tube
  • Sample label mismatch

Understanding Your Results

The molecular genetics laboratory reports pathogenic and likely pathogenic variants in CRYBB1 as positive. A negative result means no disease-causing sequence variant was identified in the coding regions analyzed. All results must be interpreted in the context of clinical findings, ophthalmic examination, and family history.
📊

Pathogenic variant detected

Positive result. The finding is consistent with CRYBB1-related cataract type 17.

Clinical action: Provide genetic counseling and offer targeted predictive testing to at-risk relatives.

📊

Likely pathogenic variant detected

The variant is expected to be disease-causing, although evidence is not fully established.

Clinical action: Consider family co-segregation studies to clarify pathogenicity.

📊

Variant of uncertain significance (VUS) detected

The variant is not currently classified as pathogenic or benign.

Clinical action: Review in a multidisciplinary setting; additional family testing may be needed.

📊

No pathogenic variant detected

Negative result. No clinically significant CRYBB1 variant was identified.

Clinical action: Consider other cataract genes or non-genetic causes depending on the clinical picture.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you or your child has early-onset or familial cataract; if a CRYBB1 variant has been reported in the family; or if parents wish to know the recurrence risk for future pregnancy.

Limitations

  • ⚠Genetic testing cannot determine exact age of onset, cataract morphology, or visual prognosis.
  • ⚠Standard NGS may not reliably detect all large deletions or complex structural rearrangements in CRYBB1.
  • ⚠A negative result does not exclude another genetic or non-genetic cause of cataract.
  • ⚠A variant of uncertain significance may require additional family segregation studies before clinical use.

Risks & Considerations

  • ●Bruising at venipuncture site
  • ●Slight pain or dizziness during blood draw
  • ●No direct ocular risk as the test is performed on DNA from blood or FTA card sample

Interfering Factors

  • ●Cross-contamination from another sample
  • ●Sample mix-up or labelling error
  • ●Recent allogeneic stem cell transplant
  • ●High level of DNA degradation from improper storage
  • ●Heparin contamination in DNA sample

Compare With Similar Tests

TestCRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test
ComparisonCRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test

Frequently Asked Questions

What is CRYBB1 gene cataract type 17?
Cataract type 17 is an inherited form of cataract caused by pathogenic variants in the CRYBB1 gene. CRYBB1 provides instructions for beta-crystallin B1, a structural lens protein. When the protein is abnormal, the lens can lose transparency and develop opacity.
How is the NGS genetic test different from a routine eye examination?
An eye examination detects lens opacity and assesses visual function. The NGS test identifies the DNA change in the CRYBB1 gene that can explain the genetic cause. It does not replace the ophthalmologist’s clinical examination.
Who should consider this test?
People with early-onset or bilateral cataract of unknown cause, those with a family history of hereditary cataract, and family members of a confirmed CRYBB1 variant carrier may consider this test after genetic counseling.
What sample is required?
The test can be performed on peripheral blood collected in an EDTA tube, an extracted DNA sample, or one drop of blood placed on an FTA card.
Do I need to fast before the test?
No. Fasting is not required for this genetic test.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic sequence variant was detected in the CRYBB1 gene coding regions analyzed. It does not exclude every genetic cause of cataract, because other genes or variant types may be involved.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was found in CRYBB1. This supports a molecular diagnosis of CRYBB1-related cataract type 17 and allows targeted testing of at-risk family members.
How long does it take to receive reports?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Can this test predict the age of onset or cataract severity?
No. A CRYBB1 variant increases the likelihood of cataract, but the test cannot predict the exact age of onset, morphological type, or visual outcome.
Should I still see an ophthalmologist after the genetic test?
Yes. The genetic test is an adjunct to clinical care. An ophthalmologist should interpret the eye findings and manage cataracts, including decisions about surgical treatment and visual rehabilitation.
How does a positive result affect family members?
A confirmed CRYBB1 variant has implications for recurrence risk. Parents, siblings, and children may choose to undergo targeted genetic testing and genetic counseling to understand their own status.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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