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WFS1 Gene Cataract Type 41 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

WFS1 Gene Cataract Type 41 NGS Genetic Test

Short Name: WFS1 Cataract 41 NGS

Also known as: WFS1 Gene Cataract 41 Test, Cataract Type 41 NGS Genetic Test, WFS1 Ocular Genetic Panel

WFS1 Gene Cataract Type 41 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 usually available in 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)Children, Adolescents and Adults🏠 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

The purpose of this NGS genetic test is to identify a clinically significant variant in the WFS1 gene in suspected WFS1 gene cataract type 41, supporting an accurate diagnosis and allowing informed clinical management.

Test Code
3783
ICD Code
H26.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available in 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling discussion is recommended before testing to draw a family pedigree and obtain informed consent. Please carry previous eye examination reports and family history details.

Method: Peripheral blood collection or FTA card spot

Step 2

Laboratory Analysis

A peripheral blood sample will be collected by venepuncture, or a drop of blood will be placed on an FTA card if home sample collection is selected. The procedure is quick and associated with minimal discomfort.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample should be transported to the laboratory at the recommended temperature and processed for DNA extraction.

Timeline: Reports are usually available in 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended to draw a pedigree chart of family members affected with WFS1 gene cataract type 41. The referring clinician should confirm the clinical indication and provide relevant ophthalmological records.
2
During the Test:A sample is obtained from blood or FTA card. DNA is extracted and the WFS1 gene is analysed using next-generation sequencing technology.
3
After the Test:The laboratory will release the report and share Raw Data, FASTQ and VCF files. The patient should schedule a follow-up consultation to discuss the result with the doctor.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify a clinically significant variant in the WFS1 gene in suspected WFS1 gene cataract type 41, supporting an accurate diagnosis and allowing informed clinical management.

How to Prepare

  • No fasting is required.
  • Use an EDTA vacutainer for blood collection.
  • If FTA card is used, let the blood spot dry completely before packing.
  • Label the sample clearly with the patient's name, date of birth, and collection time.
  • Avoid moisture and direct sunlight on the FTA card.
  • Inform the laboratory about any prior genetic testing or relevant family history.

Doctor's Notes

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

"A molecular diagnosis of WFS1-related cataract can guide visual prognosis, surveillance for associated eye findings, and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or one FTA spot
ContainerEDTA tube or FTA card
Collection MethodPeripheral blood collection or FTA card spot

Sample Stability

Whole blood in EDTA is stable for 24 to 48 hours at 2-8 degrees Celsius.
FTA card spots are stable for several months at room temperature when kept dry.
Extracted DNA is stable at -20 degrees Celsius or below.
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Incorrect anticoagulant used
  • Insufficient sample volume
  • Unlabelled or mislabelled sample
  • Wet FTA card or evidence of microbial growth

Understanding Your Results

The WFS1 gene test report should be reviewed by the referring ophthalmologist and a clinical geneticist. Genetic counselling is recommended to discuss the clinical significance of the result.
📊

No pathogenic variant detected

Does not rule out WFS1-related cataract or other genetic causes. Clinical ophthalmological follow-up remains important.

📊

Pathogenic or likely pathogenic variant detected

Confirms the molecular diagnosis in the appropriate clinical context and enables targeted screening and family counselling.

📊

Variant of uncertain significance (VUS) detected

The variant cannot yet be classified; additional family testing or clinical correlation may help determine its significance.

📊

Positive predictive implications

A confirmed WFS1 result may also guide the clinician to screen for other WFS1-related clinical features as indicated by the patient's presentation.

⚠️ When to Consult a Doctor:

You should consult an ophthalmologist and/or clinical geneticist if you or your child have early-onset cataract, reduced visual responsiveness, excessive squinting, cloudy vision, or a family history of WFS1-related ocular disease.

Limitations

  • ⚠NGS may not detect all types of genetic variation such as certain large structural rearrangements
  • ⚠A negative WFS1 result does not exclude cataracts caused by other genes
  • ⚠Variant classification may change over time and re-analysis may be recommended
  • ⚠The report must be interpreted by a qualified clinical geneticist in correlation with ophthalmological findings

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Light-headedness during blood draw
  • ●Very small risk of infection or local haematoma

Interfering Factors

  • ●Insufficient DNA quantity or poor DNA quality
  • ●Haemolysed or clotted blood sample
  • ●Unexpected sample mix-up or incorrect labelling
  • ●Variants located outside the targeted WFS1 coding and splice regions
  • ●Incomplete clinical history provided by the referring physician or patient

Compare With Similar Tests

TestWFS1 Gene Cataract Type 41 NGS Genetic TestWFS1 Targeted NGSCongenital Cataract NGS Panel
ComparisonWFS1 Gene Cataract Type 41 NGS Genetic Test

Frequently Asked Questions

What is WFS1 gene cataract type 41?
WFS1 gene cataract type 41 is a rare genetic disorder caused by variants in the WFS1 gene. It affects the lens of the eye and typically results in early-onset cataracts during childhood or adolescence.
What are the early signs of WFS1-related cataract?
Early signs may include clouding of the lens, blurred vision, glare, difficulty seeing at night, family history of cataracts, and in some patients, glaucoma, optic atrophy or nystagmus.
How can this condition be confirmed?
A detailed eye examination and genetic testing using NGS to detect a pathogenic WFS1 variant are needed. The diagnosis is based on clinical findings plus the genetic test result.
What sample is needed for the WFS1 gene test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used. FTA card collection is useful for home sample collection.
Is fasting necessary before this genetic test?
No, fasting is not required. You can continue your regular diet and medicines unless your physician advises otherwise.
How much does the test cost at DNA Labs India?
The test cost is Rs 20000, which includes home sample collection in selected cities and a clinical genetic report.
How long will the test report take?
Reports are generally available in 3 to 4 weeks because NGS sequencing, quality checks, analysis and clinical interpretation take time.
What technology is used?
The WFS1 gene is analysed using Next-Generation Sequencing, or NGS, which can examine the coding regions and splice sites of WFS1 in a single assay.
What will my report tell me?
The report will say whether a pathogenic or likely pathogenic WFS1 variant, a variant of uncertain significance, or no such variant was detected. It must be interpreted by a specialist.
Can a negative WFS1 gene test rule out all inherited cataracts?
No. A negative WFS1 result only means no clinically significant variant was found in WFS1. Other cataract-causing genes may still be involved.
Who should take this test?
Individuals with early cataracts, a family history of WFS1 gene-related eye disease, and those whose ophthalmologist suspects a genetic cause may be considered for testing.
Why does DNA Labs India provide raw data files?
DNA Labs India provides Raw Data, FASTQ, and VCF files with the clinical report to allow transparency, further bioinformatics review, and re-interpretation when new evidence emerges.
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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