NHS Gene Cataract, X-Linked NGS Genetic Test
Short Name: NHS Gene Cataract NGS
Also known as: NHS Gene Mutation Analysis, X-Linked Cataract NGS Test, NHS Gene Sequencing, NHS-Related NGS Genetic Test
NHS Gene Cataract, X-Linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) of NHS gene on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the NHS gene associated with X-linked cataract. It confirms clinical suspicion, enables carrier detection among family members, and provides risk assessment for reproductive decisions.
- Test Code
- 3795
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from the date the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS) of NHS gene
Sample Collection
No specific preparation is required. A referral from an ophthalmologist or clinical geneticist is recommended. Genetic counselling and pedigree analysis are performed before testing.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a peripheral blood sample in an EDTA tube, or a few drops of blood on an FTA card, depending on the chosen sample type.
Report Delivery
There are no post-collection restrictions. Patients may resume normal activities immediately.
Timeline: Reports are issued within 3 to 4 weeks from the date the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the NHS gene associated with X-linked cataract. It confirms clinical suspicion, enables carrier detection among family members, and provides risk assessment for reproductive decisions.
How to Prepare
- Ensure correct patient identification using name, date of birth, and unique ID.
- Sample should be collected in an EDTA vacutainer or spotted on the FTA card as per kit instructions.
- Labels must include patient name and unique barcode.
- Store blood at 2-8°C if transportation is delayed.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Understanding the X-linked inheritance pattern of NHS gene cataract is critical for family screening and reproductive planning. Genetic testing not only confirms the diagnosis but also informs carriers of their status."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improper labeling or mismatch of patient details
- Hemolyzed, clotted, or frozen whole blood
- Insufficient sample volume or low DNA concentration
- Sample received in expired or inappropriate collection tube
Understanding Your Results
Pathogenic variant detected
Positive result. The patient is affected with NHS gene cataract. Family cascade screening and genetic counselling are recommended.
Likely pathogenic variant detected
Positive result. Likely disease-causing. Further confirmatory testing or family segregation may be advised.
Variant of uncertain significance (VUS)
The clinical significance is unclear. Additional testing of family members may help reclassify.
No pathogenic variant detected
Negative result. NHS-gene-associated cataract is unlikely. Other genetic and non-genetic causes of cataract should be considered.
Consult an ophthalmologist or clinical geneticist if you or your child has congenital or early-onset cataract, or if you have a family history of X-linked cataract or NHS gene mutations. Genetic counselling is recommended before and after testing.
Limitations
- ⚠This test specifically analyses the NHS gene and does not evaluate other genes implicated in inherited cataract.
- ⚠Variants of uncertain significance (VUS) may be reported and require additional family studies.
- ⚠Genetic testing cannot predict clinical severity or age of onset accurately.
- ⚠Standard NGS may not detect large deletions/duplications or deep intronic mutations unless advanced bioinformatics or complementary techniques are used.
Risks & Considerations
- ●Minimal risk of bruising, bleeding, or infection at the blood collection site
- ●Possible emotional or psychological impact after receiving a genetic test result
- ●Unexpected findings may have implications for family members
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in cord blood samples
- ●Rare deep intronic or large structural variants may not be detected by standard NGS
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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