Test Price
2,800 AED✅ Home Collection Available
TCF4 Gene Pitt-Hopkins Syndrome Genetic Test (NGS) – Dubai, UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM–11 PM).
Clinical Guidance: Telephonic Post-Test Genetic Counseling included.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TCF4 Gene NGS Test definitively diagnoses Pitt-Hopkins Syndrome (PTHS), a rare neurodevelopmental disorder caused by mutations in the TCF4 gene. This next-generation sequencing analysis provides full gene coverage, detecting single nucleotide variants, small indels, and copy number variants, ensuring the highest diagnostic yield in dysmorphology evaluations.
| Feature | Our Test (TCF4 NGS) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Precision | 99.9% analytical sensitivity; full gene analysis | Limited to known point mutations; misses large deletions |
| Methodology | Next-Generation Sequencing (NGS) with CNV calling | Sanger sequencing – lower throughput |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I stress that the TCF4 gene NGS test is a crucial component of the diagnostic workup for suspected Pitt-Hopkins syndrome. However, results must be correlated with a detailed clinical dysmorphology assessment and developmental history. A positive result confirms the diagnosis, while a negative result does not entirely exclude other neurodevelopmental disorders, indicating the need for broader genomic testing. Pre-test genetic counseling is essential to discuss the implications for the child and family.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Advisory & Safety Protocol
Do not discontinue any prescribed medication without consulting your doctor. This test does not alter ongoing treatment; any change must be guided by a physician familiar with your child’s complete clinical picture.
Exclusion Criteria & Emergency Red Flags
- Active severe infection or acute metabolic decompensation – postpone collection until stabilisation.
- Known bleeding disorder or anticoagulant therapy without physician clearance – risk of haematoma.
- Sudden respiratory distress, prolonged apnoea, or cyanosis during blood draw – stop and seek immediate medical aid.
Patient FAQ & Clinical Guidance
1. What is the TCF4 Gene NGS Test for Pitt-Hopkins syndrome?
This test uses next-generation sequencing to analyse all coding regions of the TCF4 gene, detecting single nucleotide variants, small deletions, and copy number changes that cause Pitt-Hopkins syndrome. It is the most comprehensive genetic diagnostic tool for children presenting with severe intellectual disability, characteristic facial dysmorphism, and episodic hyperventilation. A genetic counseling session is included to review the family pedigree and ensure informed consent, especially for minors under the UAE Federal Law No. 2 of 2019 on health data protection.
2. Which sample types are accepted and how is home collection arranged?
We accept whole blood (EDTA tube), extracted DNA, or a single drop of blood on an FTA card, with home collection available 8 AM to 11 PM via our ISO-certified cold-chain mobile phlebotomy team. After booking via WhatsApp +971 54 548 8731, a paediatric-trained phlebotomist visits your location in the UAE, verifies consent and clinical history, and draws the sample using a pain-minimisation protocol. The sample is transported at 2–8°C directly to our NGS facility, ensuring DNA integrity and compliance with UAE PDPL data privacy standards.
3. How reliable is this test and what do the results mean for my child?
With 99.9% diagnostic sensitivity and ISO 9001:2015 accreditation, a positive result confirms Pitt-Hopkins syndrome with near certainty, while a negative result reduces its likelihood but warrants additional genomic investigation. Results are interpreted by a board-certified clinical geneticist, and a post-test telephonic consultation with Dr. Quteineh is included to explain the findings, recurrence risk, and next steps. The report also carries the ICD-10 code Q87.0 (congenital malformation syndromes) and the LOINC identifier 82939-0 for standardised medical records.
UAE Regulatory & Data Privacy Adherence
Compliance & Data Privacy Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Genetic data is classified as sensitive and processed strictly for diagnostic purposes with explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Ensures secure electronic health records and data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Governs clinical testing safety and patient consent requirements.
- ISO 9001:2015 Certification: INT/EGQ/2509DA/3139 – Laboratory and logistics processes audited annually.
Clinical & Logistical Metadata
| Test Name | TCF4 Gene NGS Test for Pitt-Hopkins Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Calling |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | DHA License #1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians