Test Price
2,800 AED✅ Home Collection Available
AP1S1 Gene MEDNIK Syndrome Genetic Test in UAE | 2800 AED | DHA‑Approved
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next Generation Sequencing (NGS) – every variant confirmed by Sanger sequencing.
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post‑test telephonic interpretation by a DHA‑licensed Consultant Medical Geneticist, coordinated with your referring physician.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731 before collection.
- Price: 2,800 AED inclusive of genetics consultation and report.
Test Overview & Methodology
The AP1S1 gene MEDNIK syndrome genetic test employs high‑resolution NGS to detect disease‑causing variants in the AP1S1 gene, enabling early molecular diagnosis in suspected paediatric and adult patients. This test is processed under DHA‑licensed facility 1143 with strict adherence to UAE data protection and health information laws.
| Parameter | Our Test (DHA‑Lab 1143) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Targeted Gene Sequencing) with deletion/duplication analysis | Sanger sequencing (limited to single‑exon; misses large rearrangements) |
| Diagnostic Sensitivity | >99.5% for SNVs & indels; ~95% for CNVs | ~90% for SNVs; cannot detect most CNVs |
| Turnaround Time | 3–4 Weeks (Expedited) | 4–6 Weeks |
| Bioinformatics | ClinVar‑synchronised, ACMG/AMP classification, reviewed by 3 independent experts | Basic variant calling |
Physician Insight & Safety Protocols
“Genetic testing is a powerful diagnostic tool, but it must be integrated with a thorough clinical evaluation. I always stress that any result from the AP1S1 test should be interpreted alongside the patient’s complete medical history and family pedigree. As a DHA‑licensed Consultant Medical Geneticist, I emphasize that no test is 100% definitive; clinical correlation and multidisciplinary follow‑up remain essential for optimal patient outcomes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Safety Precautions & Clinical Advisory
Medication and Prior Test Advisory
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace ongoing therapeutic management or clinical monitoring.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Not intended for asymptomatic individuals without a family history of MEDNIK syndrome. Pre‑test genetic counselling is mandatory. Avoid sample collection in neonates with known severe coagulopathy unless cleared by a haematologist.
- Emergency Red Flags After Sample Collection: If you experience excessive bleeding, rapidly expanding haematoma, signs of infection (redness, warmth, pus), or fainting, seek immediate medical attention at the nearest emergency department.
- Vulnerable Groups: Minors must have explicit consent from a legal guardian, fully compliant with Federal Decree‑Law No. 4 of 2016 on Medical Liability. All personal health information is protected under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
Patient FAQ & Clinical Guidance
1. What is the AP1S1 MEDNIK syndrome genetic test and who should consider it?
This test detects disease‑causing variants in the AP1S1 gene to confirm MEDNIK syndrome in patients presenting with ichthyosis, developmental delay, sensorineural hearing loss, and peripheral neuropathy. Doctors typically request it for children or adults exhibiting hallmark signs such as keratoderma, enteropathy, and intellectual disability.
2. How accurate is the NGS test and will it give a definitive answer?
The test achieves over 99.5% analytical sensitivity for single nucleotide variants and small insertions/deletions, and is considered the gold standard for AP1S1 molecular diagnosis. A positive result confirms the syndrome; a negative result reduces suspicion but may require additional testing if symptoms persist.
3. What does the home collection service include and how soon will I get results?
A DHA‑certified phlebotomist arrives at your location between 8 AM and 11 PM to collect a venous blood sample (or buccal swab for paediatric cases). The sample is transported in an ISO 9001:2015‑certified cold chain to our genomics laboratory. The full report is issued within 3 to 4 weeks, followed by a telephonic consultation with a Consultant Medical Geneticist to explain the findings.
UAE Regulatory & Data Privacy Adherence
All DNA Labs UAE services operate under the regulatory oversight of the Dubai Health Authority (DHA Facility License 1143). We strictly comply with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree‑Law No. 4 of 2016 on Medical Liability
Patient consent, data security, and clinical reporting follow the highest standards to ensure confidentiality and ethical medical practice.
Clinical & Logistical Metadata
| Test Name | AP1S1 Gene MEDNIK Syndrome Genetic Test (NGS & Sanger Confirmation) |
| Price (AED) | 2,800 AED (all inclusive) |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA tube) or buccal swab – VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection available daily 8 AM – 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with deletion/duplication analysis, Sanger confirmation of pathogenic variants |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) – MEDNIK syndrome |
| LOINC Code | 78126-8 (Gene mutation detected in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians