Test Price
2,800 AED✅ Home Collection Available
IARS2 Gene Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- 99.9% Diagnostic Accuracy via ISO 9001:2015 certified next-generation sequencing (NGS) with a clinically validated bioinformatics pipeline.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection — available daily from 8 AM to 11 PM across all UAE emirates.
- Post-Test Telephonic Consultation included for result interpretation, clinical guidance, and family planning discussion.
- Insurance Coverage Verification via WhatsApp: +971 54 548 8731 — send your Emirates ID and insurance card photo for same-day confirmation.
- DHA Licensed Facility — License No. 1143, Dubai Healthcare City.
Test Overview & Methodology
The IARS2 Gene Genetic Test detects pathogenic variants in the IARS2 gene, which encodes mitochondrial isoleucyl-tRNA synthetase. Mutations in this gene cause a multisystem syndrome characterised by congenital cataracts, growth hormone deficiency, progressive sensorineural hearing loss, peripheral sensory neuropathy, and skeletal dysplasia. This targeted NGS assay provides comprehensive coverage of all coding exons, splice sites, and copy number variants, delivering results with sensitivity and specificity exceeding 99.9%. The test is indicated for patients of any age presenting with features suggestive of mitochondrial aminoacyl-tRNA synthetase deficiency, and it supports confirmatory diagnosis, carrier testing, and family counselling.
| Feature | Our Test: IARS2 NGS | Closest Alternative: Whole Exome Sequencing |
|---|---|---|
| Precision | Near-100% coverage of IARS2 coding region + splice sites + CNV analysis | Broad exome-wide analysis; lower coverage uniformity per individual gene |
| Methodology | Targeted NGS with clinically validated bioinformatics pipeline | Exome-wide NGS; higher rate of incidental findings |
| Turnaround Time | 21–28 days | 42–56 days typical |
| Cost Efficiency | Targeted analysis at 2800 AED | Higher cost due to broader scope |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I underscore that the IARS2 genetic test must be interpreted within the context of a comprehensive clinical evaluation and a detailed three-generation family pedigree. A pathogenic variant confirms a molecular aetiology but does not predict disease severity or progression; a negative result does not exclude other genetic or acquired causes. The post-test telephonic consultation is essential to translate genomic findings into actionable clinical management and to address reproductive implications.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Do not discontinue, alter, or initiate any prescribed medication without direct consultation with your treating physician. Genetic test results serve as a complementary diagnostic tool and do not override clinical judgment or current therapeutic regimens.
Exclusion Criteria & Urgent Care Red Flags
- Minors: Testing for individuals under 18 years requires written informed parental consent and mandatory genetic counselling in compliance with UAE paediatric consent regulations.
- Acute Illness: Defer sample collection if you have a current febrile illness or have received a blood transfusion within the preceding four weeks.
- Pregnancy: Pregnant women must first consult a maternal-fetal medicine specialist due to potential incidental findings that may have implications for the pregnancy.
- Seek Emergency Care Immediately If: You experience sudden vision loss, acute severe hearing deterioration, new-onset numbness or weakness in the limbs, or any neurological deficit. These symptoms may signify an unrelated acute condition requiring urgent medical intervention.
Patient FAQ & Clinical Guidance
1. What is the IARS2 gene and what medical conditions are linked to it?
The IARS2 gene encodes mitochondrial isoleucyl-tRNA synthetase, an enzyme critical for mitochondrial protein synthesis. Pathogenic variants in IARS2 cause a rare multisystem syndrome characterised by congenital cataracts, postnatal growth hormone deficiency, progressive sensorineural hearing loss, peripheral sensory neuropathy, and skeletal dysplasia. This condition follows an autosomal recessive inheritance pattern. Genetic confirmation via NGS sequencing enables precise diagnosis, guides surveillance for associated complications, and informs family planning decisions.
2. How is the IARS2 genetic test performed and what sample is required?
A peripheral whole blood sample (EDTA tube), saliva specimen, or FTA card with a single dried blood spot is collected by a DHA-licensed phlebotomist. Our laboratory performs targeted next-generation sequencing (NGS) covering all coding exons, intron-exon boundaries, and copy number regions of the IARS2 gene. The process is minimally invasive, and our mobile phlebotomy service ensures temperature-controlled transport from your home or office between 8 AM and 11 PM daily.
3. What is the cost of the IARS2 test in the UAE and does health insurance cover it?
The total price is 2800 AED, which includes the NGS analysis, bioinformatics interpretation, a detailed clinical report, and a post-test telephonic consultation with a genetic counsellor. Most UAE health insurance plans cover diagnostic genetic testing when ordered by a physician. For immediate verification of your policy benefits, send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731 — our billing team will confirm coverage within the same working day.
4. How long does it take to get results and how will I receive them?
The standard turnaround time is 21 to 28 days from sample receipt. Results are delivered via a secure, encrypted digital portal accessible through your personal account. A printed copy can be sent upon request. Our clinical team will schedule a telephone consultation within three business days of result release to explain the findings, discuss clinical implications, and coordinate any necessary referrals.
5. Can the IARS2 test detect carriers or be used for prenatal diagnosis?
Yes, the test accurately identifies heterozygous carriers with a single pathogenic variant. For couples at risk, carrier testing is recommended prior to conception. Prenatal testing (chorionic villus sampling or amniocentesis) can be arranged through our maternal-fetal medicine network. All reproductive genetic testing requires pre-test and post-test genetic counselling, which we provide as part of the service.
UAE Regulatory & Data Privacy Adherence
Data Protection: All patient information, genetic data, and clinical records are processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Genetic results are encrypted end-to-end and accessible only to authorised healthcare professionals directly involved in your care.
Clinical Safety & Consent: Sample collection, handling, and reporting adhere to the standards set forth in Federal Decree-Law No. 4 of 2016 on Medical Liability. Written informed consent is obtained before any genetic analysis, and patients retain the right to withdraw consent and request data deletion at any time.
Quality Accreditation: DNA Labs UAE operates under DHA Facility License No. 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) for clinical laboratory services.
Clinical & Logistical Metadata
| Test Name | IARS2 Gene Genetic Test (Mitochondrial Isoleucyl-tRNA Synthetase Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 days (3–4 weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Saliva, or FTA Card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with clinically validated bioinformatics pipeline — coverage of all coding exons, splice sites, and CNVs |
| ICD-10-CM Code | E88.49 (Other mitochondrial metabolism disorders), Z13.79 (Encounter for genetic testing of other disease) |
| LOINC Code | 81265-5 (Hereditary disease sequence analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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