Test Price
2,800 AED✅ Home Collection Available
NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome – Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NRXN1 gene sequencing test identifies pathogenic variants associated with Pitt-Hopkins syndrome, a rare genetic disorder characterized by intellectual disability, breathing abnormalities, and distinct facial features. This NGS test provides comprehensive analysis of the entire NRXN1 gene, including detection of deletions via MLPA.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | >99.9% coverage of coding exons, 20X depth | Targeted mutation panel limited |
| Method | NGS with MLPA for deletions | Sanger sequencing of selected exons |
| Speed | 3-4 Weeks | 4-6 Weeks |
Physician Insight & Safety Protocols
Advisory on Medication and Test Preparation
Important Notice
Please consult your physician before stopping any prescribed medications. This test requires no special preparation; however, inform the phlebotomist of any anticoagulant use.
Safety Exclusion Criteria & Emergency Red Flags
- Patient must be clinically stable; active febrile illness may delay sample collection.
- Avoid anticoagulant use within 48 hours before blood draw if possible, unless medically necessary.
- If the patient exhibits signs of acute respiratory distress, seizures, or severe dehydration, seek immediate emergency care instead of scheduling a test.
- This test is not for carrier screening in asymptomatic adults without confirmed family history; consult genetic counseling first.
Patient FAQ & Clinical Guidance
1. What does this test detect?
This NGS sequences the entire NRXN1 gene to identify point mutations, small deletions, or insertions that cause Pitt-Hopkins syndrome, providing a definitive genetic diagnosis.
2. How soon can I get results?
Results are typically available within 3 to 4 weeks; we provide expedited reporting for urgent clinical cases upon request.
3. Is home sample collection safe?
Yes, our DHA-licensed phlebotomists use ISO-certified cold-chain transport, ensuring sample integrity from your doorstep to our CAP-accredited lab.
UAE Regulatory & Data Privacy Adherence
Compliant with 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. Additionally adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability.
DHA License No.: 1143 | Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Support: WhatsApp & Phone +971 54 548 8731 | 8 AM – 11 PM daily
Clinical & Logistical Metadata
| Test Name | NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (Home Collection Available via VIP Mobile Phlebotomy) |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA deletion analysis |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 21797-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians