Test Price
2,800 AED✅ Home Collection Available
IARS2 Gene Multisystem Disorder NGS Test – Genetic Diagnosis in Dubai
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 certified laboratory processing.
- Logistics Excellence: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Post-test teleconsultation for result interpretation by a Consultant Medical Genetics specialist.
- Insurance: Direct coverage verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The IARS2 Gene Multisystem Disorder NGS Test is a next‑generation sequencing analysis designed to detect pathogenic variants in the IARS2 gene, which encodes mitochondrial isoleucyl‑tRNA synthetase. Pathogenic variants in this gene are associated with a syndromic complex encompassing congenital cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. Early molecular diagnosis enables targeted clinical management, tailored endocrine intervention, and informed genetic counselling.
| Feature | Our IARS2 NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision / Coverage | Full gene with 100× average coverage including deep intronic regions | Exons only, limited variant detection |
| Methodology | Next‑Generation Sequencing (NGS) on Illumina platform | Sanger sequencing (targeted, lower throughput) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that this NGS test identifies molecular defects in IARS2, a critical mitochondrial enzyme. A positive result must be correlated with clinical phenotype, family history, and auxiliary endocrine/neurological assessments. It does not replace comprehensive paediatric, ophthalmological, or audiological evaluation. Genetic counselling prior to and after testing is strongly recommended for all families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Clinical Continuity
⚠️ Medication Advisory
Do not discontinue prescribed medications (e.g., growth hormone therapy, antiepileptics, immunosuppressants) without consulting your primary physician. Genetic testing is a diagnostic tool and does not alter existing acute or chronic treatment protocols.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness or uncontrolled coagulopathy requires prior physician clearance before blood collection.
- Red Flag: Sudden, rapid deterioration of vision or hearing.
- Red Flag: New‑onset motor weakness, severe ataxia, or loss of consciousness.
- Red Flag: Signs of adrenal crisis (hypoglycaemia, hypotension) in a patient known for growth hormone deficiency.
- If any of these occur, proceed to the nearest emergency department immediately. This test is diagnostic; it does not manage acute crises.
Patient FAQ & Clinical Guidance
1. What is the IARS2 gene and why is this test recommended for multisystem symptoms?
The IARS2 gene encodes a mitochondrial enzyme essential for protein synthesis; pathogenic variants cause a syndrome combining cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This NGS test is the definitive molecular diagnostic tool for confirming the condition in individuals presenting with this clinical spectrum.
2. How long does the result take and are there any special preparations required?
Results are available within 3 to 4 weeks. The test does not require fasting or medication cessation. A peripheral blood sample is collected after completing a genetic counselling session to review family history and obtain informed consent.
3. Can a negative result rule out the disorder completely and what are the next steps?
A negative NGS result reduces but does not eliminate the possibility of IARS2‑related disease, as deep intronic or copy‑number variants may be missed. Clinical follow‑up with an endocrinologist and neurologist remains essential, and additional genomic testing (e.g., whole exome or whole genome sequencing) may be considered if clinical suspicion persists.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring patient data confidentiality and secure processing.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health information handling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing clinical safety and informed consent standards.
All genetic data is encrypted and accessible only to authorized licensed physicians and genetic counsellors. Patient consent is obtained prior to sample collection and data processing.
Clinical & Logistical Metadata
| Test Name | IARS2 Gene Multisystem Disorder NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | E71.1 |
| LOINC Code | 94222-2 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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