HSF4 Gene Cataract, Lamellar NGS Genetic Test
Short Name: HSF4 Cataract NGS Test
Also known as: HSF4 Genetic Test, Lamellar Cataract NGS Panel, HSF4 Gene Sequencing Test, HSF4 Hereditary Cataract DNA Test
HSF4 Gene Cataract, Lamellar 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 Results are usually available in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
Confirm HSF4 gene mutations and support presymptomatic risk assessment in hereditary lamellar cataract.
- Test Code
- 3790
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are usually available in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A clinical history and pedigree may be requested by the genetic counsellor or referring physician.
Method: Venipuncture / FTA blood spot
Laboratory Analysis
A trained phlebotomist will collect blood in an EDTA tube. For FTA card collection, one drop of blood is placed on the FTA card according to instructions.
Report Delivery
The sample is transported to the laboratory for NGS analysis. You will receive the report through the chosen delivery method once testing is completed.
Timeline: Results are usually available in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
Confirm HSF4 gene mutations and support presymptomatic risk assessment in hereditary lamellar cataract.
How to Prepare
- No fasting is required.
- Please provide the referring physician’s clinical notes and family pedigree if available.
- For FTA cards, let the blood spot dry completely before packing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When a child is diagnosed with lamellar cataract, looking for HSF4 variants can help parents understand recurrence risk and allow earlier evaluation of siblings."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labelled sample
- Haemolysed or clotted blood
- Wet or contaminated FTA card
- Insufficient sample quantity
- Incomplete clinical history is provided when required
Understanding Your Results
No pathogenic/likely pathogenic variant detected
HSF4-related hereditary cataract is unlikely; other genetic or environmental causes may be considered.
Pathogenic or likely pathogenic variant detected
A molecular diagnosis of HSF4-related cataract is confirmed; family members can be offered targeted testing.
Variant of uncertain significance (VUS)
The clinical significance is unknown; family segregation studies and further investigation may be needed.
If cataracts are detected at an unusually young age, are present from infancy, or several close relatives have childhood cataracts, consult an ophthalmologist and a clinical geneticist.
Limitations
- ⚠Targeted NGS for HSF4 does not evaluate other genetic causes of cataract.
- ⚠Deep intronic variants, large deletions/duplications or complex rearrangements may not be reliably detected.
- ⚠Results should always be interpreted alongside clinical findings, family history and genetic counselling.
Risks & Considerations
- ●Blood sample collection carries minimal risk, including slight bruising or discomfort at the puncture site.
- ●Genetic testing may reveal information relevant to family members; professional genetic counselling is advised.
Interfering Factors
- ●Mutations in other cataract-associated genes will not be detected by HSF4-targeted NGS.
- ●Very large structural rearrangements in HSF4 may not be captured by this targeted NGS assay.
- ●Poor quality or degraded DNA may reduce sequencing sensitivity.
- ●Somatic mosaicism can rarely be missed.
Frequently Asked Questions
What is HSF4 gene cataract?
What are the symptoms of HSF4 gene cataract?
How is HSF4 gene cataract diagnosed?
What type of sample is required for this NGS test?
Is fasting required before the HSF4 cataract genetic test?
What is the cost of the HSF4 Gene Cataract NGS Genetic Test?
How long does the HSF4 NGS test report take?
Does DNA Labs India provide raw data files with this test?
Is home sample collection available for this test?
Who should take the HSF4 gene cataract NGS test?
Can this NGS test detect all genetic causes of cataract?
Will insurance cover this genetic test?
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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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