Test Price
2,800 AED✅ Home Collection Available
LARGE1 Gene Muscular Dystrophy Type 1D Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified Next-Generation Sequencing (NGS) at our DHA-licensed facility (License 1143).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM – 11 PM) for standard blood draws. For dried blood spot (FTA card) collection, a trained phlebotomist collects a single drop.
Clinical Guidance: Complimentary post-test telephonic consultation with a genetic counselor to interpret results and discuss family implications.
Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This test employs Next-Generation Sequencing to detect pathogenic variants in the LARGE1 gene associated with Muscular Dystrophy-Dystroglycanopathy Type A, 1 (MDDGA1, formerly MDC1D). Early molecular diagnosis facilitates targeted management, monitoring, and family genetic counseling.
| Feature | Our Test (NGS LARGE1) | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Precision | Full gene sequencing & copy number analysis | Targeted mutation hotspots only |
| Methodology | Next-Generation Sequencing (NGS) with bioinformatics | Sanger sequencing (limited scope) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that LARGE1 genetic testing must be correlated with clinical phenotype and family history. The NGS method provides high sensitivity, but interpretation requires a multidisciplinary approach including neurology, ophthalmology, and cardiology. Please ensure pre-test genetic counseling and informed consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Medication Advisory
Genetic results must not replace clinical management. Do not alter or discontinue prescribed therapies (e.g., corticosteroids, cardiac medications) without consulting your treating physician. The test is for diagnostic purposes only.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Do not proceed with home collection if the patient has a known active infection with fever >38.5°C or is haemodynamically unstable.
- Exclusion: Patients with bleeding disorders (e.g., haemophilia) or on high-dose anticoagulants must have blood drawn under hospital supervision.
- Red Flags: Sudden muscle weakness, respiratory distress, or swallowing difficulties require immediate emergency care, not a genetic test.
- Note: Pre-test genetic counseling (included) is mandatory to obtain informed consent and construct a family pedigree, as per Federal Decree-Law No. 4 of 2016.
Patient FAQ & Clinical Guidance
1. What does a positive LARGE1 gene result mean for my child?
Snippet: A positive result confirms a diagnosis of LARGE1-related muscular dystrophy type 1D, which typically presents with congenital muscle weakness and possible brain or eye anomalies. Genetic counseling clarifies prognosis and family recurrence risks.
2. How is the sample collected for this DNA test?
Snippet: A simple blood draw from a vein, a pre-extracted DNA sample, or a single drop of blood on an FTA card. Our trained phlebotomist performs the collection during a scheduled home visit. For FTA cards, follow the provided instructions for spot collection.
3. Is pre-test genetic counseling mandatory before the test?
Snippet: Yes, a genetic counseling session is mandatory to draw a detailed family pedigree, explain the scope of the test, and obtain informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal data are processed and stored in UAE-based, HIPAA-equivalent secure servers, fully compliant with PDPL principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure adheres to this law for electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent and clinical safety protocols follow this law.
- DHA License: Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- ISO 9001:2015 Certification: Our laboratory is ISO-certified, ensuring rigorous quality management systems.
Clinical & Logistical Metadata
| Test Name | LARGE1 Gene Muscular Dystrophy Type 1D Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene sequencing and copy number analysis |
| ICD-10-CM Code | G71.2 |
| LOINC Code | 76894-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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