IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
To diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.
- Test Code
- 5691
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Laboratory Analysis
Your sample is analyzed using NGS (Next Generation Sequencing) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.
How to Prepare
- Collect blood sample or saliva sample as per kit instructions.
- Ensure sample is stored at ambient room temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of IARS2-related disorder. Consult genetic counselor for management.
Negative for pathogenic variants
No mutations detected. Symptoms may be due to other causes. Further testing may be needed.
When experiencing symptoms like cataracts, growth issues, neuropathy, hearing loss, or skeletal abnormalities, or with a family history of such conditions.
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
Frequently Asked Questions
What is the IARS2 gene test?
Why is the IARS2 gene test important?
What symptoms indicate the need for this test?
How is the IARS2 gene test performed?
What is the cost of the IARS2 gene test?
How long does it take to get results?
Is home sample collection available?
What do the results mean?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
How accurate is the IARS2 gene test?
What should I do after receiving the results?
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₹20,000Reference Laboratory Services
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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