Test Price
2,800 AED✅ Home Collection Available
PAK3 Gene Mental Retardation, X-linked Type 30 Genetic Test in UAE | 2800 AED | DHA Licensed Lab
Executive Summary & Core Metrics
This NGS-based genetic test provides accurate diagnosis of X-linked intellectual disability type 30 caused by PAK3 mutations, with ≥99.9% diagnostic sensitivity through ISO-accredited NGS processing and orthogonal Sanger validation. Premium home phlebotomy service available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport. Complimentary telephonic post-test counseling with a genetics professional for variant interpretation and clinical correlation. Direct billing verification via WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: ≥99.9% diagnostic sensitivity via ISO‑accredited NGS and Sanger confirmation.
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available 8 AM – 11 PM daily.
- Clinical Guidance: Free telephonic post-test counseling with a licensed genetics professional.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PAK3 (p21‑activated kinase 3) gene NGS test identifies pathogenic variants causing X‑linked intellectual disability type 30, a syndromic form of mental retardation with variable neurological features. This advanced technology uses full DNA sequencing to identify mutations accurately and guide clinical management.
| Feature | Our PAK3 NGS Test | Closest Alternative (Standard Karyotyping/Fragile X) |
|---|---|---|
| Precision | Single‑nucleotide & copy‑number variant detection, genomic coverage of entire PAK3 coding region ±20 bp | Typically limited to large chromosomal abnormalities; PAK3 point mutations not resolved |
| Methodology | Next‑Generation Sequencing (NGS) with Sanger confirmation; bioinformatics aligned to GRCh38 | G‑banded karyotype or Fragile X PCR, which miss >90% of PAK3 mutations |
| Turnaround Time | 3–4 weeks (expedited reporting available on request) | 2–6 weeks; often requires multiple reflex tests |
Physician Insight & Safety Protocols
“While this state‑of‑the‑art NGS assay accurately detects PAK3 variants, the diagnosis of X‑linked intellectual disability still demands thorough clinical phenotyping, neurodevelopmental evaluation, and integration of a detailed pedigree. Please correlate molecular findings with clinical presentation. Do not discontinue any prescribed medication without consulting your specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Advisory & Safety Precautions
Safety Exclusion Criteria & Emergency Red Flags
- Patients who have undergone allogeneic bone marrow transplantation within the last 6 months (risk of donor‑derived DNA contamination).
- Acute neurological regression, status epilepticus, or loss of developmental milestones — seek immediate emergency care.
- Inability to obtain valid informed consent; for minors, a legal guardian must provide consent per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Samples collected outside of sterile, ISO‑compliant containers will be rejected to preserve cold‑chain integrity.
Medication Notice: Do not discontinue prescribed medications prior to sample collection without explicit physician approval.
Patient FAQ & Clinical Guidance
1. What does the PAK3 gene test actually detect, and how accurate is it?
This NGS test detects single nucleotide variants, small insertions/deletions, and copy number variations across the full PAK3 coding sequence with ≥99.9% sensitivity. Every pathogenic or likely pathogenic variant is confirmed by orthogonal Sanger sequencing before reporting, ensuring diagnostic-grade reliability. The test covers all ClinVar‑classified and novel variants relevant to X‑linked intellectual disability type 30.
2. How is the sample collected, and what are the requirements for the test?
A simple blood draw (3‑5 ml whole blood in EDTA tube), extracted DNA, or a single dried blood spot on an FTA card is sufficient. Our licensed phlebotomists perform home collection under stringent cold‑chain conditions, ensuring sample stability. Pre‑genetic counseling is mandatory to draw a detailed pedigree chart; we schedule a telehealth session at your convenience. No fasting or special preparation is required unless otherwise instructed by your physician.
3. Is my genetic data protected under UAE law, and who gets access to the results?
All patient genomic data is processed and stored strictly in compliance with UAE PDPL (Federal Decree‑Law No. 45 of 2021 on Personal Data Protection) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Results are released only to the authorized referring neurologist or medical geneticist, and a copy is provided to the patient/guardian after identity verification. Data is never shared with third parties without explicit written consent; all bioinformatics pipelines run on encrypted servers within the UAE.
UAE Regulatory & Data Privacy Adherence
All procedures are conducted in full compliance with DHA Facility License No. 1143. Patient data is protected under 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. Clinical consent and liability follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory is ISO‑accredited and adheres to international standards for genetic testing and data security.
Clinical & Logistical Metadata
| Test Name | PAK3 Gene Mental Retardation, X-linked Type 30 Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | F78.9 (Other specified intellectual disabilities) |
| LOINC Code | 78027-6 (Gene sequencing panel interpretation) |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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