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GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test

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GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test

Short Name: GCNT2 Cataract NGS

Also known as: GCNT2 Gene Mutation Analysis, Autosomal Dominant Cataract Genetic Test, GCNT2 Sequencing Test

GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Targeted gene sequencing with bioinformatics analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the sample reaches 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

The purpose of this test is to identify clinically significant pathogenic variants in the GCNT2 gene in individuals with early-onset, familial or autosomal dominant cataract. Genetic confirmation helps support the diagnosis, assess recurrence risk and guide family screening and management.

Test Code
3786
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Targeted gene sequencing with bioinformatics analysis
Step 1

Sample Collection

Please provide the clinical history of the patient who is going for the GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test. A genetic counselling session will be conducted to draw a pedigree chart of family members affected with GCNT2-related autosomal dominant cataract. No fasting is required.

Method: Venous blood draw or FTA spot collection

Step 2

Laboratory Analysis

Sample collection is simple. A small blood sample is drawn into an EDTA vacutainer, or one drop of blood is collected on an FTA card, or an extracted DNA sample may be provided. The sample must be labelled correctly with patient name and unique identifier.

Step 3

Report Delivery

The sample should be stored and transported according to the instructions given by DNA Labs India. The report will be delivered in 3 to 4 weeks through the preferred digital channel. A genetic counsellor may contact you to discuss the result.

Timeline: 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is required to document the family pedigree and clinical history. No fasting is needed for this genetic test.
2
During the Test:A blood sample or FTA card sample will be collected. The sample is then sent to the genetics laboratory for NGS analysis.
3
After the Test:The laboratory will perform sequencing, bioinformatics analysis and clinical interpretation. The report is issued in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify clinically significant pathogenic variants in the GCNT2 gene in individuals with early-onset, familial or autosomal dominant cataract. Genetic confirmation helps support the diagnosis, assess recurrence risk and guide family screening and management.

How to Prepare

  • Online bookings are eligible for free home sample collection across major Indian cities.
  • For FTA card collection, apply one drop of blood and allow the card to dry completely.
  • For EDTA blood collection, label the vacutainer and keep it at 2-8°C if shipping is delayed.
  • Do not freeze whole blood samples.
  • Provide the clinical history and pedigree chart at the time of sample submission.

Doctor's Notes

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

"A genetic cause should be considered when cataracts occur early in life or are present in several family members. Identifying a GCNT2 variant helps the clinician provide accurate risk information and plan family screening."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne drop blood on FTA card or as instructed at booking
ContainerEDTA Vacutainer / FTA Card / DNA vial
Collection MethodVenous blood draw or FTA spot collection

Sample Stability

EDTA blood: up to 24-48 hours at 2-8°C before processing
FTA card: stable at room temperature for several weeks when kept dry
Extracted DNA: store at -20°C to -80°C until shipment
Sample Rejection Criteria:
  • Hemolysed or frozen whole blood sample
  • Unlabelled or mislabelled sample
  • Insufficient sample quantity
  • Sample received without clinical history or informed consent
  • Sample stored or transported under inappropriate conditions

Understanding Your Results

This targeted NGS test evaluates the GCNT2 gene. All clinically significant variants are interpreted in the context of ACMG guidelines, clinical symptoms and family history. The result should be discussed with a genetic counsellor or the referring clinician.
📊

No pathogenic variant detected

No GCNT2-related autosomal dominant cataract identified. Other genetic and non-genetic causes of cataract should be considered.

📊

Pathogenic or likely pathogenic variant detected

Result is consistent with hereditary cataract caused by GCNT2 mutation. Family members may be at risk and genetic counselling is recommended.

📊

Variant of uncertain significance (VUS)

The clinical significance is currently unknown. Additional family testing and further laboratory studies may be needed.

⚠️ When to Consult a Doctor:

If you have blurred vision, cloudy vision, glare sensitivity, night vision difficulty or a known family history of early-onset cataract, consult an ophthalmologist. After genetic testing, a clinical geneticist should explain the result and the recurrence risk for family members.

Limitations

  • ⚠This test analyses only the GCNT2 gene and does not rule out other genetic causes of cataract.
  • ⚠NGS may not detect large structural rearrangements, deep intronic variants, or regulatory region variants.
  • ⚠A variant of uncertain significance may be reported and require additional family studies.
  • ⚠A negative result does not exclude all hereditary or non-genetic causes of cataract.

Risks & Considerations

  • ●No serious risks are associated with genetic testing.
  • ●Blood collection may cause mild bruising, discomfort or, rarely, localised hematoma.

Interfering Factors

  • ●Inadequate or degraded DNA sample
  • ●Contamination during sample collection or processing
  • ●PCR inhibitors in the extracted DNA
  • ●Unreported family history leading to incomplete interpretation
  • ●Variants in regions not well covered by the targeted NGS assay

Compare With Similar Tests

TestGCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test
ComparisonGCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test

Frequently Asked Questions

What is the GCNT2 gene cataract?
GCNT2 gene cataract is an inherited form of cataract caused by mutations in the GCNT2 gene. The gene helps make an enzyme important for lens proteins, and alterations can lead to clouding of the eye lens. It follows autosomal dominant inheritance.
How is GCNT2 gene cataract inherited?
It is inherited in an autosomal dominant manner. One copy of the altered GCNT2 gene in each cell is enough to cause the condition. Each child of an affected parent has a 50% chance of inheriting the altered gene.
What are the symptoms of GCNT2 gene cataract?
Symptoms include blurred vision, cloudy or dim vision, difficulty seeing at night, sensitivity to glare, fading or yellowing of colors, and double vision in one eye. If these symptoms appear, you should see an ophthalmologist promptly.
Why should I undergo an NGS genetic test for GCNT2?
NGS genetic testing can identify mutations in the GCNT2 gene associated with autosomal dominant cataract. It helps confirm a genetic diagnosis, estimate recurrence risk, and guide screening of family members.
What is the cost of the GCNT2 NGS genetic test?
At DNA Labs India, the test costs INR 20000. This special discounted price includes free home sample collection for online bookings. The listed price is all-inclusive for the NGS genetic test and clinical report.
What sample types are accepted for this test?
The accepted samples are whole blood in an EDTA vacutainer, extracted DNA, or one drop of blood on an FTA card. The laboratory confirms the exact requirement at the time of booking.
Is fasting required for this test?
No, fasting is not required for the GCNT2 Gene Cataract Autosomal Dominant NGS Genetic Test. The test can be done at any time of the day.
How will I receive the reports and how long will it take?
Reports are delivered in 3 to 4 weeks through the online portal, email or WhatsApp. DNA Labs India also provides raw data files such as FASTQ and VCF along with the clinical report.
What is genetic counselling and why is it required?
Genetic counselling helps understand the inheritance pattern, draws a family pedigree, explains the recurrence risk and supports informed decisions. It is an essential part of this test and is performed before sample collection.
Can this test tell whether my children will develop cataract?
A positive genetic test result indicates the variant is present and each child has a 50% chance of inheriting it. It does not predict the exact age of onset, severity or progression of cataract.
What are the possible results of this NGS test?
The test can show no pathogenic variant, a pathogenic or likely pathogenic variant, or a variant of uncertain significance. A variant of uncertain significance means further studies are needed before it can be used for diagnosis.
Should I get raw data files with the report?
Yes. Raw data files such as FASTQ and VCF allow transparency and future re-analysis. DNA Labs India shares raw data, FASTQ and VCF files along with the conclusive clinical report.
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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