Test Price
2,800 AED✅ Home Collection Available
PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with DHA-certified genetics specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Service accredited by the Dubai Health Authority (DHA) ensuring 99.9% accuracy and strict genetic data confidentiality.
Test Overview & Methodology
The PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test uses Next Generation Sequencing (NGS) to detect pathogenic variants in the PTPN14 tumor suppressor gene, definitively diagnosing hereditary lymphedema-choanal atresia syndrome and informing surveillance for associated cancer risks.
| Feature | Our Test (NGS Full Gene) | Conventional Sanger Sequencing |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – full gene coverage | Sanger sequencing – limited to known hotspots |
| Diagnostic Sensitivity | >99.9% for coding and splice-site variants | ~85% – may miss deep intronic or structural variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (AED) | 2,800 AED | 3,500 AED (approx.) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize that the PTPN14 genetic test is instrumental in diagnosing hereditary lymphedema-choanal atresia syndrome and assessing lifetime cancer predisposition. However, results must be carefully integrated with clinical findings and detailed family history. Pre- and post-test genetic counselling is strongly advised to empower patients with informed decision-making.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile infection, recent blood transfusion (<14 days), or inability to provide informed consent.
- Exclusion: Known interfering medications that affect DNA quality (discuss during genetic counseling).
- Emergency: In neonates, sudden respiratory distress or cyanosis – suspect bilateral choanal atresia; seek immediate ENT evaluation.
- Emergency: Rapidly progressive lymphedema with fever, redness, or sepsis signs – possible lymphangitis, urgent care needed.
Patient FAQ & Clinical Guidance
1. What does the PTPN14 genetic test diagnose?
The PTPN14 genetic test definitively diagnoses hereditary lymphedema-choanal atresia syndrome by detecting pathogenic variants in the PTPN14 tumor suppressor gene. It also helps assess lifetime cancer predisposition associated with this condition.
2. How is the sample collected and what preparation is required?
A simple blood draw, extracted DNA, or a single drop of blood on an FTA card is collected by our VIP mobile phlebotomy team. No fasting or special preparation is needed, but prior genetic counseling is strongly recommended.
3. What do positive or negative test results mean for my health?
A positive result confirms a disease-causing variant and enables personalized surveillance and early intervention, while a negative result significantly reduces but does not eliminate syndromic risk, especially if family history is strong. Genetic counseling provides a comprehensive interpretation.
Pre-Test Information: A detailed clinical history and genetic counseling session are mandatory to construct a family pedigree and inform interpretation. Contact our team to schedule a pre-test consultation.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Framework
This genetic test is performed under the strict oversight of the Dubai Health Authority (DHA) and complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring patient genetic information confidentiality.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing secure electronic health data handling.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – safeguarding patient rights and informed consent in clinical testing.
All genetic results are encrypted and stored in compliance with these federal regulations, and released only to the consulting physician or the patient with explicit consent.
Clinical & Logistical Metadata
| Test Name | PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card (dried blood spot) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – full gene coverage including coding regions and splice sites |
| ICD-10-CM Code | Q87.8, Q30.0, I89.0 |
| LOINC Code | 91853-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians