Test Price
2,800 AED✅ Home Collection Available
POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A3 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with Full Gene Coverage and CNV Detection
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available Daily 8 AM to 11 PM)
- Clinical Guidance: Telephonic Post-Test Genetic Counseling and Result Interpretation by a Consultant Medical Geneticist
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
- Regulatory Compliance: Fully Adherent to UAE Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 on Health ICT
Test Overview & Methodology
This advanced next-generation sequencing (NGS) test targets the POMGNT1 gene to definitively diagnose congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3), commonly presenting as Walker-Warburg syndrome or muscle-eye-brain disease. The analysis includes full gene sequencing with copy number variant detection, ensuring identification of both sequence variants and structural rearrangements. The test is performed on peripheral whole blood specimens collected via our certified mobile phlebotomy service, providing families with convenient at-home sample collection.
| Feature | Our POMGNT1 NGS Test | Conventional Single-Gene Test |
|---|---|---|
| Methodology | NGS with CNV analysis, 100% gene coverage | Sanger sequencing, limited to point mutations |
| Diagnostic Yield | Detects SNVs, indels, large deletions/duplications | Misses ~10% of causative variants |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Pre-test Support | Mandatory genetic counselling & pedigree chart | Often not systematically provided |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognize the profound impact a definitive molecular diagnosis can have on affected families. This NGS-based POMGNT1 gene test is a vital tool in confirming congenital muscular dystrophy with brain and eye anomalies, yet results must be correlated with neuroimaging, ophthalmologic assessment, and metabolic biochemistry. A negative result does not exclude other genetic or acquired etiologies and should never replace comprehensive multidisciplinary follow-up.”
— Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory
Do not discontinue prescribed medication without consulting your doctor. This genetic test is intended for diagnostic confirmation and clinical guidance; it does not replace urgent medical care for acute symptoms.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria:
– Not suitable for acute emergency scenarios or unstable patients.
– Requires written informed consent; for minors, mandatory parental/guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
– Contraindicated in patients with uncorrected bleeding disorders without prior physician clearance.
– Prenatal testing must be performed only under a qualified genetic counselor’s supervision.
Emergency Red Flags (seek immediate medical help):
Sudden, severe muscle weakness, difficulty breathing, new-onset seizures, loss of consciousness, or unremitting pain. For children, any rapid neurological deterioration or feeding difficulties require urgent evaluation; do not delay care while awaiting test results.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the POMGNT1 genetic test?
This NGS-based genetic test identifies disease-causing mutations in the POMGNT1 gene to confirm congenital muscular dystrophy with brain and eye anomalies, guiding prognosis and tailored multidisciplinary care. A definitive molecular diagnosis enables precise genetic counseling for family planning and helps direct surveillance for associated complications such as seizures, vision loss, and developmental delay.
2. How is the sample collected and what is the turnaround time?
A simple peripheral blood draw is collected at your home by a certified phlebotomist through our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. The specimen is transported via temperature-controlled cold-chain logistics to our ISO-accredited laboratory. Results are delivered via encrypted electronic report within 3 to 4 weeks.
3. Is this test covered by insurance in the UAE?
Many UAE insurers reimburse this test after direct billing verification. Contact our billing team via WhatsApp at +971 54 548 8731 for instant pre-approval and eligibility confirmation. We work with all major insurance networks to minimize out-of-pocket expenses for patients.
4. What happens if the test result is negative but symptoms persist?
A negative result does not rule out other genetic or acquired conditions. Your consultant medical geneticist will review the clinical phenotype and may recommend additional testing such as whole exome sequencing, muscle biopsy, or neuroimaging. Ongoing specialist care remains essential regardless of the genetic test outcome.
5. Does the test require a fasting or preparation protocol?
No fasting or special preparation is required. However, we recommend informing the phlebotomist about any anticoagulant medications before the blood draw. A pre-test genetic counseling session is mandatory and will be scheduled prior to sample collection to ensure informed consent and address all your questions.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework: All patient genetic data is processed and stored in full compliance 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. These laws mandate stringent safeguards for the collection, processing, and transmission of sensitive health information.
Clinical Safety & Consent: All testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring written informed consent is obtained prior to specimen collection. Patient rights, including the right to withdraw consent and request data deletion, are fully respected.
Laboratory Accreditation: Our facility operates under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and holds a valid DHA Facility License (No. 1143). Regular external audits ensure continuous compliance with UAE healthcare regulatory standards.
Clinical & Logistical Metadata
| Test Name | POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A3 Genetic Test – NGS Full Gene Sequencing with CNV Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Calendar Days) |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA Tube) or DNA FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM–11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina Platform with Copy Number Variant (CNV) Detection; 100% Gene Coverage; Sanger Confirmation of Clinically Significant Variants |
| ICD-10-CM Code | G71.2 (Congenital Myopathy – Congenital Muscular Dystrophy) ; Q87.8 (Other Congenital Malformation Syndromes) |
| LOINC Code | 78005-7 (POMGNT1 gene full sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs 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