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IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test

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IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test

Short Name: IARS2 Gene NGS Genetic Test

Also known as: IARS2 Gene Mutation Testing, IARS2 Next Generation Sequencing, IARS2-Related Syndrome Genetic Test, Cataract-Growth Hormone Deficiency-Neuropathy-Hearing Loss-Skeletal Dysplasia Panel

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, Sanger confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify pathogenic variants in the IARS2 gene that may explain the patient's symptoms, confirm a clinical diagnosis, and enable appropriate genetic counselling and multidisciplinary management.

Test Code
3796
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing, Sanger confirmation if required
Step 1

Sample Collection

No special preparation is required. Bring a valid photo ID and any previous clinical records or investigation reports.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample will be collected by a trained phlebotomist. For FTA card, a drop of blood will be placed on the card and allowed to dry.

Step 3

Report Delivery

You may resume normal activities immediately. The sample should be transported to the laboratory as per the provided instructions.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is part of the test process. The clinician will draw a pedigree chart and explain the potential results, limitations, and implications of the test.
2
During the Test:The test requires a blood sample or FTA card blood spot. The sample is then processed in the laboratory for DNA extraction and NGS analysis.
3
After the Test:The laboratory will generate a clinical report and provide raw data files. A genetic counsellor or physician should discuss the results and their implications with you.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the IARS2 gene that may explain the patient's symptoms, confirm a clinical diagnosis, and enable appropriate genetic counselling and multidisciplinary management.

How to Prepare

  • Carry a valid colour photo ID for identity verification.
  • Inform the phlebotomist about any bleeding disorder or anticoagulant use.
  • FTA card samples should be air-dried and placed in the provided envelope.
  • Use the unique test label on the sample tube or card.

Doctor's Notes

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

"A confirmed IARS2 diagnosis can be helpful in guiding multidisciplinary care and reproductive counselling for affected families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

EDTA blood: 2-8°C for 72 hours
Extracted DNA: -20°C for 6 months
FTA card: Room temperature for up to 30 days
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • FTA card contaminated or wet
  • Unlabelled or mismatched sample
  • Sample received more than 4 days after collection without proper storage

Understanding Your Results

The IARS2 gene NGS test analyses the coding regions and intron-exon boundaries of IARS2 to identify variants that may explain the clinical features. The laboratory reports pathogenic, likely pathogenic, and variants of uncertain significance according to international guidelines.
No pathogenic variant detected: No causal variant identified in IARS2, but clinical evaluation should continue.
Likely pathogenic/pathogenic variant detected: This indicates a molecular diagnosis is likely; results should be correlated with clinical phenotype.
Variant of uncertain significance (VUS) detected: Additional family testing and functional evidence may be required to clarify its role.
⚠️ When to Consult a Doctor:

If you or your child have any combination of bilateral cataract, growth failure, hearing loss, neuropathic symptoms, or skeletal abnormalities, please consult a clinical geneticist or neurologist for further assessment.

Limitations

  • ⚠This NGS test analyses IARS2 but may not detect large deletions/duplications, triple repeat expansions, or deep intronic variants.
  • ⚠Regions with low sequencing coverage may not be reliably interpreted.
  • ⚠A negative result does not exclude a genetic cause, as variants in other genes could produce similar clinical features.
  • ⚠Variants of uncertain significance (VUS) may need additional family segregation studies and functional assessment.

Risks & Considerations

  • ●Mild pain, bruising, or bleeding at the blood draw site
  • ●Fainting or dizziness during blood collection
  • ●Possible inconclusive result requiring additional testing
  • ●Psychological impact of an unexpected genetic finding

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample mix-up or contamination
  • ●Presence of homologous sequences affecting alignment
  • ●Variant interpretation may require parental samples

Compare With Similar Tests

TestIARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test
ComparisonIARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test

Frequently Asked Questions

What is the IARS2 gene?
IARS2 encodes isoleucyl-tRNA synthetase, a mitochondrial enzyme that attaches isoleucine to tRNA during protein synthesis. Variants in this gene can affect mitochondrial protein production and lead to a rare syndrome.
Which conditions are associated with IARS2 mutations?
Mutations in IARS2 can cause cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia, and in some cases, features resembling Leigh syndrome.
When is this NGS genetic test recommended?
It is recommended when a person has one or more features suggestive of an IARS2-related disorder, especially unexplained cataract, growth failure, sensorineural hearing loss, neuropathy, or skeletal dysplasia.
What does NGS genetic testing involve?
The test uses next-generation sequencing to read the coding regions and splice junctions of the IARS2 gene, then compares the sequence to a reference to identify potentially pathogenic variants.
Is fasting required for this test?
No, fasting is not required for the IARS2 gene NGS genetic test. A blood sample can be collected at any time of the day.
How much does the IARS2 gene NGS genetic test cost at DNA Labs India?
The test costs Rs 20000 and includes free home sample collection. Reports are issued within 3 to 4 weeks.
Will I receive raw data files with the report?
Yes. DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report for full transparency.
What sample is accepted for this test?
The sample can be peripheral blood, extracted DNA, or a single blood spot on an FTA card.
Who should order this test?
The test is usually ordered by a clinical geneticist, endocrinologist, ophthalmologist, or neurologist based on the patient's history and clinical findings. A genetic counselling session is part of the process.
What are the possible results?
Results may show no pathogenic variant, a pathogenic or likely pathogenic variant, or a variant of uncertain significance. A specialist will interpret the result in relation to the clinical picture.
Is the test covered by insurance?
Most insurance plans treat genetic tests as out-of-pocket, but some may cover them depending on the indication and policy. You should confirm with your insurance provider.
How long does it take to get the report?
The turnaround time is typically 3 to 4 weeks after the sample reaches the laboratory.
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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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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✓ 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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