How long will it take to receive the test results?

Results are typically available within 3 to 4 weeks. Expedited reporting is available for urgent clinical cases upon request.

Is home sample collection available and safe?

Yes, DHA-licensed phlebotomists provide VIP Mobile Phlebotomy with ISO-certified cold-chain transport, ensuring sample integrity.

What does a positive result mean?

A positive result indicates the presence of a pathogenic variant in the NRXN1 gene associated with Pitt-Hopkins syndrome, confirming the diagnosis.

Do I need to fast or make any dietary changes before the test?

No special preparation is required for this test. However, please inform the phlebotomist if you are using any anticoagulants.

Genetics → Single Gene Sequencing

Results: 3 to 4 Weeks Sample: Peripheral Whole Blood

Test Price

2,800 AED

✅ Home Collection Available

📋 Results in 3 to 4 Weeks

NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome – Genetic Test in Dubai, UAE

Q: What specific genetic changes does this test look for?

This NGS test sequences the entire NRXN1 gene to identify point mutations, small deletions, or insertions that cause Pitt-Hopkins syndrome.

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

As a Consultant Medical Genetics, I advise that this test uncovers critical genetic information affecting developmental trajectory. Families should correlate findings with clinical assessments and genetic counseling. No single lab result should stand alone; comprehensive evaluation ensures appropriate management. — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403

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

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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

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Available in Arabic, English, Hindi & Urdu

Preparation Required

["No special preparation required", "Inform phlebotomist of anticoagulant use"]

Medically Reviewed by Dr. Lina Osama Zaki Quteineh

All content reviewed by qualified professionals for accuracy.

🏅

ISMS 27001:2022

📋

ISO Accredited

🔒

HIPAA

All reports reviewed by DHA-Certified physicians

Related Tests

Single Gene Sequencing

NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome – Genetic Test in Dubai, UAE

Executive Summary & Core Metrics

Test Overview & Methodology

Physician Insight & Safety Protocols

Advisory on Medication and Test Preparation

Important Notice

Safety Exclusion Criteria & Emergency Red Flags

Patient FAQ & Clinical Guidance

1. What does this test detect?

2. How soon can I get results?

3. Is home sample collection safe?

UAE Regulatory & Data Privacy Adherence

Clinical & Logistical Metadata

التحقق من التغطية التأمينية

Preparation Required

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How would you prefer?

NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome – Genetic Test in Dubai, UAE

Executive Summary & Core Metrics

Test Overview & Methodology

Physician Insight & Safety Protocols

Advisory on Medication and Test Preparation

Important Notice

Safety Exclusion Criteria & Emergency Red Flags

Patient FAQ & Clinical Guidance

1. What does this test detect?

2. How soon can I get results?

3. Is home sample collection safe?

UAE Regulatory & Data Privacy Adherence

Clinical & Logistical Metadata

التحقق من التغطية التأمينية

📋 Preparation Required

Related Tests

Crigler-Najjar Syndrome Single Gene Sequencing Test

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test

CYLD Gene Analysis for Spiegler-Brooke Syndrome (NGS) Test

RET Gene (Exons 5, 8, 10, 11, 13–16) Selective Sequencing (NGS) Test

Preparation Required