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 Sequencing Test, IARS2 Mitochondrial tRNA Synthetase Genetic Test, IARS2 Mutation Analysis NGS Test, Isoleucyl-tRNA Synthetase Gene 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), Sanger Confirmation of detected variants, Bioinformatic analysis and variant interpretation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at 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
The purpose of the IARS2 Gene NGS Genetic Test is to identify pathogenic mutations in the IARS2 gene responsible for a mitochondrial disorder characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This test enables confirmatory diagnosis in clinically suspected cases, carrier identification in family members, informed genetic counseling regarding recurrence risks, and guidance for clinical management and surveillance of associated complications.
- Test Code
- 2290
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of detected variants, Bioinformatic analysis and variant interpretation
Sample Collection
Genetic counseling session is recommended prior to sample collection. A detailed clinical history of the patient and a pedigree chart of family members affected with the condition should be prepared. No fasting is required. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture / FTA Card blood spot
Laboratory Analysis
A blood sample of 3-5 mL is collected in an EDTA (lavender top) vacutainer via standard venipuncture technique. Alternatively, one drop of blood can be applied to an FTA card. The sample is labeled with patient details and transported to the laboratory at ambient room temperature.
Report Delivery
After sample collection, patients may resume normal activities immediately. The sample is processed in the molecular genetics laboratory where DNA extraction, library preparation, and NGS sequencing are performed. Results are typically available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the IARS2 Gene NGS Genetic Test is to identify pathogenic mutations in the IARS2 gene responsible for a mitochondrial disorder characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This test enables confirmatory diagnosis in clinically suspected cases, carrier identification in family members, informed genetic counseling regarding recurrence risks, and guidance for clinical management and surveillance of associated complications.
How to Prepare
- Collect 3-5 mL of whole blood in an EDTA (lavender top) vacutainer
- Alternatively, apply one drop of blood onto the provided FTA card
- Label the sample with the patient's full name, date of birth, and unique identifier
- Transport the sample at ambient room temperature; do not freeze
- Ensure the sample reaches the laboratory within 48 hours of collection
- Avoid hemolyzed or clotted samples as they may be rejected
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"IARS2 gene mutations cause a rare autosomal recessive mitochondrial disorder with multisystem involvement. Patients often present with early-onset cataracts, sensorineural hearing loss, and short stature due to growth hormone deficiency and skeletal dysplasia. Sensory neuropathy may be progressive. I recommend this NGS test for patients presenting with any combination of these features, particularly when mitochondrial disease is suspected. Early genetic diagnosis allows for targeted management, anticipatory guidance for potential complications, and informed family planning through carrier testing of at-risk relatives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or patient identification
- Hemolyzed, clotted, or insufficient volume of blood sample
- Sample collected in incorrect anticoagulant (non-EDTA tube)
- Sample received beyond the acceptable stability window
- Leaking or damaged sample container
- FTA card with blood sample not fully dried before packaging
Understanding Your Results
No pathogenic variant detected
No pathogenic or likely pathogenic variant was identified in the IARS2 gene. This result does not completely exclude an IARS2-related disorder if the causative variant lies in non-coding or regulatory regions not covered by this test. Clinical correlation and further evaluation may be warranted.
Pathogenic or Likely Pathogenic variant detected (Homozygous or Compound Heterozygous)
Two pathogenic or likely pathogenic variants identified in the IARS2 gene consistent with autosomal recessive inheritance. This confirms the molecular diagnosis of IARS2-related mitochondrial disorder. Carrier testing of parents and at-risk family members is recommended.
Single Pathogenic or Likely Pathogenic variant detected (Heterozygous carrier)
One pathogenic or likely pathogenic variant identified. The individual is an obligate carrier for IARS2-related disorder. Carrier testing of the partner is recommended for family planning purposes. A second variant in trans may not have been detected by this method.
Variant of Uncertain Significance (VUS) detected
A variant was identified whose clinical significance cannot be determined with available evidence. Segregation analysis in the family, functional studies, and updated variant databases may help reclassify the variant over time. Clinical management should be based on the patient's phenotype.
Consult a clinical geneticist or the referring physician if the test result is positive for a pathogenic variant, if a VUS is detected and you have questions about its significance, if there is a strong clinical suspicion despite a negative result, or if you are planning a pregnancy and wish to understand recurrence risks. Genetic counseling is strongly recommended for all individuals undergoing this test.
Limitations
- ⚠This test does not detect large genomic deletions or duplications unless specifically assessed by CNV analysis
- ⚠Deep intronic variants, regulatory region mutations, and mitochondrial DNA variants outside IARS2 are not covered
- ⚠A negative result does not completely exclude a genetic etiology if the causative variant lies outside the tested regions
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further family studies for reclassification
- ⚠This test is not validated for prenatal diagnosis from chorionic villus or amniotic fluid samples
Risks & Considerations
- ●Minimal physical risk; standard blood draw may cause minor bruising or discomfort at the puncture site
- ●Psychological impact: Results may cause anxiety or distress, especially if pathogenic variants are identified
- ●Potential for uncertain findings (VUS) that may require further investigation and prolonged uncertainty
- ●Implications for family members who may also carry the mutation and require testing
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing results
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination during sample collection or processing
- ●Hemolyzed or clotted blood samples may be rejected
Compare With Similar Tests
| Test | IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test | Single Gene Sanger Sequencing (IARS2) | Whole Exome Sequencing (WES) | Mitochondrial Genome Sequencing | Targeted Mitochondrial Disease Gene Panel |
|---|---|---|---|---|---|
| Comparison | IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test |
Frequently Asked Questions
What is the IARS2 gene and what does it do?
What conditions are associated with IARS2 gene mutations?
How is the IARS2 gene disorder inherited?
What sample is required for the IARS2 Gene NGS Genetic Test?
How long does it take to get the results of the IARS2 Gene NGS Genetic Test?
What is the cost of the IARS2 Gene NGS Genetic Test in India?
Is genetic counseling required before taking this test?
What does a positive test result mean?
Can carriers of IARS2 mutations have symptoms?
Does DNA Labs India provide raw data files with the test report?
Is the IARS2 Gene NGS Genetic Test covered by insurance in India?
Is home sample collection available for this test?
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