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 Mutation Analysis, IARS2-Related Mitochondrial Disorder Test, Combined Oxidative Phosphorylation Deficiency 16 Genetic Test, IARS2 CDPDX16 NGS 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 (NGS), Bioinformatic Analysis, Sanger Confirmation (if required) 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 identify pathogenic or likely pathogenic variants in the IARS2 gene that are responsible for Combined Oxidative Phosphorylation Deficiency 16. This test aids in confirming a clinical diagnosis, differentiating IARS2-related disorders from other mitochondrial and genetic conditions with overlapping phenotypes, enabling carrier testing for at-risk family members, guiding reproductive counselling, and informing targeted clinical management.
- Test Code
- 2376
- CPT Code
- 81479
- ICD Code
- Q87.89
- 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), Bioinformatic Analysis, Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is mandatory before sample collection. The counsellor will draw a pedigree chart of family members affected with IARS2-related features. Clinical history of the patient, including prior diagnostic workup and imaging reports, should be provided to the laboratory.
Method: Venipuncture / FTA Card / Extracted DNA submission
Laboratory Analysis
A 3-5 mL venous blood sample is drawn into an EDTA (lavender-top) tube under aseptic conditions. Alternatively, one drop of blood on an FTA card or pre-extracted DNA can be submitted. The collection is performed by a trained phlebotomist.
Report Delivery
The sample is labelled, stored at ambient room temperature, and transported to the DNA Labs India facility under controlled conditions. No special post-collection care is required for the patient.
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 identify pathogenic or likely pathogenic variants in the IARS2 gene that are responsible for Combined Oxidative Phosphorylation Deficiency 16. This test aids in confirming a clinical diagnosis, differentiating IARS2-related disorders from other mitochondrial and genetic conditions with overlapping phenotypes, enabling carrier testing for at-risk family members, guiding reproductive counselling, and informing targeted clinical management.
How to Prepare
- Ensure genetic counselling has been completed and pedigree chart is available
- Provide complete clinical history and prior investigation reports
- Blood sample should be collected in a lavender-top EDTA tube
- Label the sample clearly with patient name, date of birth, and sample ID
- Do not freeze the sample; store and transport at ambient room temperature
- FTA card samples require a single drop of capillary or venous blood applied evenly
- Pre-extracted DNA should be submitted in TE buffer at a minimum concentration of 50 ng/µL
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"IARS2 gene disorders present a complex multi-system phenotype. I recommend this NGS test for patients presenting with early-onset cataracts combined with growth failure, hearing loss, or skeletal abnormalities. Genetic counselling is strongly advised both before and after testing to help families understand inheritance patterns, recurrence risks, and available management options."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Hemolyzed, clotted, or insufficient volume blood samples
- Samples without completed clinical history or genetic counselling documentation
- Contaminated or degraded extracted DNA samples
Understanding Your Results
Pathogenic variant detected
One or more pathogenic variants identified. In the homozygous or compound heterozygous state, this is consistent with IARS2-related Combined Oxidative Phosphorylation Deficiency 16 (COXPD16). Clinical correlation is recommended. Carrier testing for family members should be offered.
Likely pathogenic variant detected
Likely pathogenic variant(s) identified. Strongly suggestive of IARS2-related disorder. Clinical correlation and family studies are advised. Periodic reclassification as new evidence becomes available is recommended.
Variant of Uncertain Significance (VUS)
A variant with insufficient evidence for pathogenicity classification was detected. This result is non-diagnostic. Clinical correlation, family segregation studies, and periodic reanalysis are advised.
Likely benign variant detected
Likely benign variant(s) identified. These variants are not expected to cause disease. No clinical action is typically required based on this finding.
No pathogenic variant detected
No pathogenic or likely pathogenic variants were identified in the IARS2 gene. This result reduces the likelihood of an IARS2-related disorder but does not exclude other genetic or non-genetic causes. Further clinical evaluation may be warranted.
Consult a clinical geneticist or your referring specialist if you or your child experience unexplained cataracts, growth failure, hearing loss, numbness or tingling in the extremities, or abnormal bone development. If the test returns a VUS or a pathogenic variant, genetic counselling is strongly recommended for family planning and management decisions.
Limitations
- ⚠This test analyzes only the IARS2 gene; other genes causing overlapping phenotypes are not covered
- ⚠Large structural variants, copy number variations, and deep intronic mutations may not be detected by standard NGS
- ⚠Variants of uncertain significance (VUS) may be identified and require periodic reclassification
- ⚠Mosaicism at low levels below the detection threshold may not be identified
- ⚠Negative results do not completely exclude a genetic etiology for the patient's symptoms
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Emotional distress related to receiving genetic test results
- ●Potential identification of variants of uncertain significance requiring further investigation
Interfering Factors
- ●Hemolyzed blood samples may reduce DNA quality and affect sequencing results
- ●Recent blood transfusion (within 4 weeks) may yield mixed DNA profiles
- ●Concurrent chemotherapy or immunosuppressive therapy may impact DNA integrity
- ●Insufficient sample volume or degraded extracted DNA may require recollection
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Frequently Asked Questions
What is the IARS2 gene and what disorders does it cause?
Who should get the IARS2 Gene NGS Genetic Test?
How is the IARS2 Gene NGS Genetic Test performed?
What sample is required for the IARS2 Gene NGS Genetic Test?
What is the cost of the IARS2 Gene NGS Genetic Test at DNA Labs India?
How long does it take to get the results of the IARS2 Gene NGS Genetic Test?
Is the IARS2 Gene NGS Genetic Test available with home sample collection?
What does a positive result mean for the IARS2 Gene NGS Genetic Test?
What does a negative result mean?
Will DNA Labs India provide raw data files with the report?
Is genetic counselling required before taking the IARS2 Gene NGS Genetic Test?
Is the IARS2 gene disorder inherited?
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