Test Price
2,800 AED✅ Home Collection Available
IARS2 Gene Comprehensive Genetic Test in the UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The IARS2 gene Next-Generation Sequencing (NGS) test delivers precise molecular diagnosis for a rare syndromic spectrum encompassing congenital cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This comprehensive analysis is processed in our ISO 9001:2015‑certified facility with 99.9% diagnostic sensitivity, ensuring reliable results for clinical decision-making.
- Diagnostic Accuracy: 99.9% Sensitivity via Full Gene Sequencing with Deletion/Duplication Detection.
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM.
- Post-Test Support: Telephonic consultation with a qualified genetic counsellor included in the fee.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular genetic test sequences the entire coding region of the IARS2 gene using Next-Generation Sequencing (NGS) technology, enabling detection of pathogenic point mutations, small insertions/deletions, and large exonic copy number variants. The assay is indicated for individuals presenting with clinical features suggestive of IARS2‑related disorder, including early‑onset cataracts, short stature due to growth hormone deficiency, peripheral sensory neuropathy, bilateral sensorineural hearing loss, and radiographic evidence of skeletal dysplasia. Early molecular confirmation permits timely multidisciplinary intervention involving paediatric endocrinology, ophthalmology, audiology, and orthopaedic surgery.
| Feature | Our IARS2 NGS Test | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing including deletion/duplication analysis | Single variant or limited hotspot panel |
| Method | Next-Generation Sequencing (NGS) with Sanger confirmation | Sanger sequencing only (lower throughput) |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognise that receiving a genetic diagnosis carries profound emotional implications for families. This comprehensive NGS analysis of the IARS2 gene provides critical molecular evidence for the syndromic presentation of congenital cataracts, growth hormone deficiency, and the associated neurological and skeletal features. However, genetic test results must always be interpreted within the full clinical context — including physical examination findings, family pedigree, and developmental history. A negative result does not definitively exclude all genetic or non‑genetic aetiologies, and ongoing specialist follow‑up remains essential for optimal patient management.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Pre-Test Clinical Advisory
Advisory Statement
Prior to proceeding with genetic testing, a clinical consultation with a qualified physician is mandatory to establish appropriate test indications and to discuss the scope of possible results, including incidental findings unrelated to the primary clinical question. Patients should be aware that genetic testing may reveal information relevant to family members and that results may have implications for insurance coverage under UAE law.
Exclusion Criteria & Emergency Red Flags
- This test is not intended for acute medical emergencies. Seek immediate emergency care if sudden vision loss, rapid neurological deterioration, or severe skeletal pain occurs.
- Not recommended for neonates or infants with unstable clinical status; the patient must be medically stable for safe blood sample collection.
- Specimen collection must be performed exclusively by trained, licensed phlebotomists; self‑collection is strictly prohibited.
- Consult with a genetic counsellor before testing if the patient is receiving anticoagulation therapy — physician clearance is required.
Patient FAQ & Clinical Guidance
1. What is the IARS2 gene test and why is it important?
Snippet: The IARS2 NGS test sequences the entire gene to detect mutations causing a syndrome of cataracts, growth hormone deficiency, sensory neuropathy, hearing loss, and skeletal dysplasia, enabling early multidisciplinary intervention.
This advanced genetic test analyses your child’s DNA from a peripheral blood sample or FTA card to identify inherited changes in the IARS2 gene. A confirmed diagnosis allows your paediatric team to anticipate hormone replacement therapy, hearing amplification, and orthopaedic surveillance, which can significantly improve long‑term quality of life and developmental outcomes.
2. Who should consider this genetic test?
Snippet: Testing is recommended for infants and children presenting with congenital cataracts, short stature, motor delay, and abnormal hearing screening, as well as for at‑risk family members.
The test is indicated when there is clinical suspicion of IARS2‑related disorder based on early‑onset cataracts, growth hormone deficiency, sensorineural hearing loss, or radiographic skeletal abnormalities. Genetic testing of parents and siblings is also valuable for carrier detection and reproductive counselling. A referral from a paediatrician or clinical geneticist is advised.
3. How is the test performed and when will I receive results?
Snippet: A simple blood draw or FTA card sample collected at home by a VIP phlebotomist is processed using NGS, with results delivered in 3 to 4 weeks along with a post‑test genetic counselling session.
After booking, a certified phlebotomist visits your preferred location anywhere in the UAE using full cold‑chain transport. The sample is sequenced in our ISO‑accredited facility. Your personalised molecular report and a telephone consultation with a genetic counsellor are included in the 2,800 AED fee. Results are typically available within 21–28 calendar days.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates 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. All genetic data are encrypted, access‑controlled, and processed exclusively within secure UAE‑based servers. Clinical governance and patient safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is handled with the highest standards of confidentiality and is never shared with third parties without explicit informed consent as required by UAE law.
Clinical & Logistical Metadata
| Test Name | IARS2 Gene Comprehensive Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Deletion/Duplication Analysis |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians