Test Price
2,800 AEDโ Home Collection Available
IRX5 Gene Hamamy Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation provided by Consultant Medical Genetics.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The IRX5 Gene Hamamy Syndrome Genetic Test is a definitive next-generation sequencing (NGS) analysis that identifies pathogenic variants in the IRX5 gene, confirming Hamamy syndrome โ a rare autosomal recessive dysmorphology condition with characteristic facial features, intellectual disability, and skeletal anomalies. This targeted single-gene NGS assay provides full exon and splice-site coverage of IRX5, enabling detection of heterozygous, homozygous, and compound heterozygous variants with 99.9% diagnostic sensitivity.
| Feature | Our Test (IRX5 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) | Sanger Sequencing (single-gene) |
| Diagnostic Precision | 99.9% sensitivity, full-gene coverage | Targeted mutation analysis only |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I recognize the profound impact a definitive genetic diagnosis has on families navigating rare disease. The IRX5 NGS test offers unparalleled sensitivity for Hamamy syndrome, yet the result must always be correlated with the patient's dysmorphology, developmental trajectory, and three-generation pedigree. Genetic testing is a powerful guide โ it complements but never replaces comprehensive clinical evaluation and multidisciplinary care."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
โ ๏ธ Do not discontinue prescribed medication without consulting your doctor.
Any changes to ongoing therapy should only be made under the direct supervision of the treating physician. Genetic test results are not a basis for altering medication regimens without clinical correlation.
Exclusion Criteria & Emergency Red Flags
- Uncontrolled bleeding disorders or anticoagulant therapy that precludes blood draw.
- Severe eczema or infection at the venipuncture site.
- Inability to provide informed consent โ for minors, parental or legal guardian consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient exhibits acute life-threatening symptoms (e.g., seizures, respiratory distress), seek emergency care immediately; genetic testing is not a substitute for urgent evaluation.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the IRX5 Hamamy syndrome NGS test?
The test achieves 99.9% diagnostic sensitivity, leveraging advanced next-generation sequencing to detect even rare pathogenic variants in the IRX5 gene, including missense, nonsense, frameshift, and splice-site mutations.
2. How long does it take to receive results for the Hamamy syndrome genetic test?
Results are delivered within 3 to 4 weeks from sample receipt. The final clinical report is issued in DHA-compliant format and includes variant interpretation, pathogenicity classification, and recommendations for family cascade testing.
3. Is home sample collection available for this genetic test?
Yes, we offer VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM. A certified phlebotomist will collect the required specimen at your residence after scheduling via WhatsApp.
4. What sample types are accepted for the IRX5 gene test?
Accepted specimen matrices include: Whole Blood (EDTA tube, 3โ5 mL), Extracted DNA (minimum 1 ยตg at 20 ng/ยตL), or Dried Blood Spot on FTA card. No fasting is required prior to collection.
5. Is genetic counselling required before and after the test?
Yes, pre-test genetic counselling is mandatory to obtain informed consent and to discuss implications of possible results, including carrier status, variable expressivity, and reproductive options. Post-test counselling is provided telephonically by the Consultant Medical Genetics.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with UAE federal health data protection and medical liability frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governs the collection, processing, and storage of patient genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulates electronic health records and telemedicine components of the service.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishes the standard of care for pre-test counselling, informed consent, and result disclosure.
All genetic data is encrypted, access-controlled, and retained in accordance with DHA retention policies. Patients have the right to access, rectify, and request deletion of their personal data under PDPL provisions.
Clinical & Logistical Metadata
| Test Name | IRX5 Gene Hamamy Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Full gene exon and splice-site coverage |
| ICD-10-CM Code | Q87.0 (Hamamy syndrome), Z13.71 (Encounter for genetic screening), Z15.89 (Genetic susceptibility to other disease) |
| LOINC Code | 10155-0 โ Genetic analysis NGS panel |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | DNA Labs UAE โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians