IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
Short Name: IARS2 Gene NGS Test
Also known as: IARS2 Gene Mutation Test, IARS2 Sequencing 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 Next-Generation Sequencing (NGS) 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of the IARS2 Gene NGS Genetic Test is to accurately diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This test aids in confirming clinical suspicions, guiding treatment strategies, facilitating genetic counseling, and enabling family planning decisions for affected individuals and their families.
- Test Code
- 2570
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure patient identification and consent are obtained.
Method: Venipuncture or cheek swab
Laboratory Analysis
Collect blood sample via venipuncture or cheek swab following standard aseptic techniques.
Report Delivery
Label the sample correctly and transport to the laboratory at ambient temperature as per guidelines.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the IARS2 Gene NGS Genetic Test is to accurately diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This test aids in confirming clinical suspicions, guiding treatment strategies, facilitating genetic counseling, and enabling family planning decisions for affected individuals and their families.
How to Prepare
- Use sterile equipment for blood collection.
- For cheek swab, rub the inside of the cheek firmly for 30 seconds.
- Avoid eating or drinking 30 minutes before cheek swab collection.
- Store samples at room temperature and ship promptly.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of IARS2-related conditions is crucial for timely intervention, management, and genetic counseling, especially in families with a history of multisystem disorders."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated samples
- Improperly labeled or unlabeled samples
Understanding Your Results
Consult a doctor or genetic counselor if you have a family history of IARS2-related conditions, experience symptoms such as vision problems, growth issues, neuropathy, hearing loss, or skeletal abnormalities, or if genetic testing results are positive or uncertain.
Limitations
- ⚠This test may not detect all types of genetic variants, such as large deletions or duplications unless specifically designed.
- ⚠Results require interpretation by a qualified geneticist or healthcare provider.
- ⚠Genetic testing has limitations in predicting disease severity or onset.
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or discomfort at the collection site.
- ●Psychological impact of genetic results; counseling is advised.
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Presence of inhibitors in the sample affecting sequencing
Frequently Asked Questions
What is the IARS2 gene?
What conditions are associated with IARS2 gene mutations?
How is the IARS2 Gene NGS Genetic Test performed?
What is the cost of the IARS2 Gene NGS Genetic Test?
Who should consider this genetic test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
What does a positive result mean?
Can this test be done at home?
Is the test covered by insurance?
What are the risks of the test?
Related Tests
Reference 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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