Test Price
2,800 AED✅ Home Collection Available
HUWE1 Gene Sequencing Test for X-Linked Syndromic Intellectual Disability (Turner Type) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS (Next‑Generation Sequencing) Processing.
- Premium Logistics: Paid VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Guidance for comprehensive result interpretation and family planning.
- Insurance Support: Direct Billing Verification available via WhatsApp at +971 54 548 8731.
- Turnaround Time: 3–4 Weeks from sample receipt to comprehensive clinical report.
Test Overview & Methodology
The HUWE1 gene sequencing test is a targeted Next-Generation Sequencing (NGS) analysis designed to detect pathogenic variants in the HUWE1 gene associated with X‑linked syndromic intellectual disability, Turner type. This robust molecular assay examines the entire coding region, splice sites, and selected deep intronic regions to identify single nucleotide variants, small insertions/deletions, and copy number variations. It provides a definitive molecular diagnosis for affected males and accurate carrier status determination for at‑risk female relatives.
| Feature | Our NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage including deep intronic regions and copy number variants | Limited to known point mutations; misses large deletions/duplications |
| Methodology | Illumina NovaSeq NGS with 100x coverage, ACMG/ClinVar interpretation | Sanger sequencing of individual exons – low throughput |
| Turnaround | 3–4 Weeks (includes comprehensive report) | 6–8 Weeks (stepwise exon sequencing) |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I stress that comprehensive genomic analysis of HUWE1 is essential for confirming the diagnosis of X‑linked syndromic intellectual disability. This test empowers families with precise answers, enabling tailored therapeutic interventions and accurate recurrence risk counseling. Interpreting results alongside clinical presentation is paramount."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory on Genetic Testing
Genetic results for HUWE1 should always be correlated with clinical, neurodevelopmental, and familial history. A multi‑disciplinary approach involving neurology, developmental pediatrics, and clinical genetics is recommended for comprehensive management. Our complimentary telephonic post‑test clinical guidance service supports your referring physician in navigating complex results.
Safety Exclusion & Red Flags
- Exclusion Criteria: Patients unable to provide valid informed consent (parental/guardian consent for minors is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability). Individuals with untreated severe bleeding disorders or those who have received an allogenic blood transfusion within the last two weeks should defer sampling.
- Emergency Red Flags: Seek immediate medical assistance if you experience severe psychological distress following the disclosure of genetic results, new or worsening seizures, or any acute neurological deterioration.
Patient FAQ & Clinical Guidance
1. What is the HUWE1 gene test and why is it ordered?
The HUWE1 gene test is a targeted Next‑Generation Sequencing (NGS) analysis that identifies pathogenic variants in the HUWE1 gene. It is ordered for individuals presenting with syndromic intellectual disability, particularly when X‑linked inheritance is suspected. The test provides a definitive molecular diagnosis, helps assess carrier status for female relatives, and informs recurrence risk for family planning.
2. How is the sample collected for this genetic test?
The sample required is a standard peripheral whole blood specimen. Our certified phlebotomists perform the collection using VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM, ensuring sample integrity and patient comfort.
3. How long do results take and what do they mean for my child?
Comprehensive results are delivered within 3–4 weeks. A positive report identifies the specific causative genetic variant, confirming the diagnosis. A negative result does not entirely rule out a genetic cause, and variants of uncertain significance (VUS) require further family segregation studies and clinical correlation. Our genetic counselors and your referring physician will guide you through the implications and next steps.
UAE Regulatory & Data Privacy Adherence
Your Data, Securely Protected
- Data Privacy: We comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring your genetic data is encrypted, securely stored, and accessible only to authorized healthcare professionals.
- Health Data Compliance: Our IT infrastructure adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing the highest standards of digital health security and confidentiality.
Clinical & Logistical Metadata
| Test Name | HUWE1 Gene Sequencing Test (X-Linked Syndromic Intellectual Disability, Turner Type) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq 6000, 100x coverage |
| ICD-10-CM Code | F78 |
| LOINC Code | 94222-1 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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