Test Price
2,800 AED✅ Home Collection Available
Phelan-McDermid Syndrome (22q13.3 Deletion) Genetic Test – Next-Generation Sequencing (NGS)
Executive Summary & Core Metrics
This advanced molecular diagnostic test utilizes Next-Generation Sequencing (NGS) to detect clinically significant deletions or pathogenic variants in the SHANK3 gene and the 22q13.3 chromosomal region, providing a definitive diagnosis for Phelan-McDermid syndrome. The test is performed entirely within the UAE at our ISO-accredited laboratory.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- 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 for comprehensive result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971545488731.
- Test Price: 2,800 AED.
Test Overview & Methodology
Phelan-McDermid syndrome (22q13.3 deletion) is a neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, absent or delayed speech, and autistic traits. This NGS-based genetic test identifies pathogenic deletions or mutations in the SHANK3 gene and surrounding regulatory regions, which are critical for synaptic function and neurodevelopment. Early molecular diagnosis is essential for guiding clinical management, therapeutic interventions, and family planning.
| Parameter | Our Test (NGS Panel) | FISH / CMA Alternative |
|---|---|---|
| Precision | Single-nucleotide resolution, full gene coverage including intronic regions | Limited to large deletions; misses point mutations and small indels |
| Method | Next-Generation Sequencing (Illumina® platform) with bioinformatics analysis | Fluorescence In Situ Hybridization or Chromosomal Microarray |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (frequently out-sourced internationally) |
Physician Insight & Safety Protocols
“Navigating a suspected genetic syndrome can be emotionally overwhelming for families. This targeted NGS test provides definitive molecular evidence, enabling early intervention and tailored management plans. However, genetic results must be interpreted alongside comprehensive clinical evaluations and multidisciplinary assessments—no single test replaces a thorough specialist evaluation.”
— Dr. Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Important Safety Advisory
Do not discontinue prescribed medications, therapies, or interventions without consulting your physician. This test provides critical diagnostic information and should be used as part of a holistic clinical pathway overseen by a qualified geneticist or pediatric neurologist.
Exclusion Criteria & Emergency Red Flags
- Not intended for general population screening; requires clinical suspicion of Phelan-McDermid syndrome (dysmorphic features, developmental delay, autism spectrum disorder).
- Pregnancy or lactation does not preclude testing but necessitates prior genetic counseling.
- Incomplete clinical history or lack of phenotypic data may delay result interpretation.
- If the patient develops acute medical distress (e.g., seizures, respiratory compromise) unrelated to the blood draw, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the Phelan-McDermid syndrome NGS genetic test?
This advanced test uses Next-Generation Sequencing to detect deletions or mutations in the critical SHANK3 gene region on chromosome 22q13.3. It provides a definitive molecular diagnosis for Phelan-McDermid syndrome, which often presents with neonatal hypotonia, developmental delay, and autistic features. Results guide personalized care and early intervention strategies.
2. How long does it take to get results?
Turnaround time is 3–4 weeks from sample receipt. Our ISO-certified local laboratory processes samples entirely in Dubai, eliminating international shipping delays. Once completed, results are released digitally with optional telephonic guidance from clinical genetics experts.
3. How is the sample collected, and can it be done at home?
A certified phlebotomist collects a standard peripheral whole blood sample or an FTA card (dried blood spot) during a convenient in-home appointment. We offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection from 8 AM to 11 PM across the UAE. Simply contact us via WhatsApp at +971545488731 to schedule.
4. What is the cost of the test, and is it covered by insurance?
The test is priced at 2,800 AED. We offer direct billing verification with major insurance providers in the UAE. Please contact us via WhatsApp at +971545488731 to verify your coverage and initiate the pre-authorization process.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service adheres to the highest standards of medical data privacy and security, strictly complying 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, and Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is fully licensed by the Dubai Health Authority and operates in accordance with DHA/MOHAP standards.
Clinical & Logistical Metadata
| Test Name | Phelan-McDermid Syndrome (22q13.3 Deletion) NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card (Dried Blood Spots) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® Platform |
| ICD-10-CM Code | Q93.5 |
| LOINC Code | 10882-0 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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