Test Price
2,800 AED✅ Home Collection Available
PTCHD1 Gene (NGS) Genetic Test in UAE | 2,800 AED | CE-IVD & DHA Guidelines
Executive Summary & Core Metrics
This definitive, next-generation sequencing (NGS) assay offers 99.9% diagnostic sensitivity for detecting pathogenic variants in the PTCHD1 gene linked to X-linked autism spectrum disorder susceptibility. We deliver a strictly clinically correlated report, not merely raw data, enabling informed genetic counseling and early intervention planning.
- Accuracy & Methodology: 99.9% Diagnostic Sensitivity via CE-IVD NGS & ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid, Hospital-Grade Home Collection via ISO-Certified Cold-Chain Logistics & VIP Mobile Phlebotomy (Available daily 8 AM to 11 PM).
- Clinical Guidance: Mandatory Pre- and Post-Test Telephonic Clinical Guidance with our genetic counseling team.
- Insurance Support: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PTCHD1 Gene NGS test is a high-resolution genetic screen designed to identify single nucleotide variants and copy number variations within the PTCHD1 locus, a key susceptibility region for X-linked intellectual disability and autism. This assay moves beyond basic karyotyping to provide molecular-level clarity essential for familial risk assessment and personalized neurodevelopmental care planning in the UAE.
| Test Attribute | Our Test (Precision/Method/Speed) | Closest Alternative |
|---|---|---|
| Technology | NGS (Next-Generation Sequencing) | Sanger Sequencing (Single gene/lower throughput) |
| Resolution | SNVs, Indels, CNVs (> 99.9% sensitivity) | Fragile X PCR / CMA (Limited PTCHD1 CNV detection) |
| Turnaround Time (TAT) | 3 to 4 Weeks (Clinical Report) | 6-8 Weeks (Research-grade labs) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a PTCHD1 variant is not a deterministic diagnosis but a risk indicator requiring comprehensive family history correlation and multidisciplinary evaluation. Our CE-IVD validated NGS assay provides the molecular precision needed for informed genetic counseling and early intervention planning in the UAE.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuity
Do not discontinue or alter any prescribed medication, including neuroleptics or anticonvulsants, without explicit consultation with your treating neurologist or psychiatrist. This test informs genetic status and does not provide acute management guidance.
Exclusion Criteria & Safety Precautions
Pre-Test Logistics & Medication Restrictions:
A mandatory genetic counseling session is required prior to sample collection to document a three-generation pedigree chart. No fasting is required for blood draw. This test does not require cessation of routine medications; however, samples contaminated with heparin or from patients on heavy immunosuppressive therapy may require recollection. Our home collection phlebotomist will verify all conditions at the bedside.
Emergency Red Flags (ER Referral Required)
This test is not for emergency diagnosis. Seek immediate emergency care if the patient exhibits acute behavioral regression with aggression, new-onset seizures, or status epilepticus. These require urgent neurological intervention, not a genetic test result. Call 998 for UAE Ambulance services.
Patient FAQ & Clinical Guidance
1. What specific information will the PTCHD1 NGS test report provide?
The report will identify the precise genetic variant, its clinical classification (Pathogenic, Likely Pathogenic, VUS) according to ACMG guidelines, and clear clinical correlation statements linking the finding to X-linked autism susceptibility risk for family planning and early intervention strategies.
2. How does the home collection service guarantee sample stability for such sensitive DNA?
Our ISO-certified phlebotomists use validated cold-chain transport and specialized DNA-stabilizing FTA cards or EDTA vacutainers, ensuring complete genomic DNA integrity from collection at your doorstep to our processing laboratory with complete chain-of-custody documentation.
3. Is my child's genetic data fully protected under current UAE healthcare laws?
Absolutely, all testing is completely compliant with the 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, ensuring your child's genomic data is anonymized, securely stored in UAE-based servers, and never shared without your explicit, informed consent per our ISO audited protocols.
UAE Regulatory & Data Privacy Adherence
All clinical testing at DNA Labs UAE is conducted under the governance of the Dubai Health Authority (DHA) and adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Patient genomic data is encrypted, stored on UAE-based servers, and processed in compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Informed consent is obtained prior to any sample collection, with full transparency regarding data handling and retention policies.
Clinical & Logistical Metadata
| Test Name | PTCHD1 Gene (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS), CE-IVD, ISO 9001:2015 |
| ICD-10-CM Code | Z13.89 (Encounter for screening for other genetic and chromosomal anomalies) |
| LOINC Code | 96617-3 (PTCHD1 gene mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians