Test Price
2,800 AEDโ Home Collection Available
MASP1 Gene 3MC Syndrome Type 1 Genetic Test (NGS) in Dubai, UAE
Executive Summary & Core Metrics
Clinical Performance Summary
- Diagnostic Sensitivity: 99.9% via ISO 9001:2015 accredited next-generation sequencing workflow.
- Specimen Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM.
- Post-Test Support: Telephonic clinical guidance on result interpretation provided by a DHA-licensed genetics specialist.
- Insurance Facilitation: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test detects pathogenic and likely pathogenic variants in the MASP1 gene associated with 3MC syndrome type 1, a rare autosomal recessive disorder characterised by craniofacial dysmorphism, skin abnormalities, and immune system involvement. The assay employs whole-exome targeted sequencing using Illumina chemistry with a mean depth of coverage exceeding 100ร, ensuring high-confidence variant calling across all coding exons and splice junctions.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity | 93โ95% (Sanger sequencing) |
| Method | Next Generation Sequencing (NGS) | Sanger sequencing |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Home Collection | Included (8 AM โ 11 PM) | Often not available |
| Post-Test Guidance | Telephonic with DHA-licensed genetics specialist | Report only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), advises: โInterpretation of MASP1 sequence variants must be correlated with clinical phenotype, family segregation data, and in silico prediction models. A negative result does not exclude all genetic causes; therefore, multidisciplinary evaluation remains essential for comprehensive diagnosis and management planning.โ
โ ๏ธ Medication Advisory
Do not discontinue or alter any prescribed medication without prior consultation with your treating physician, as abrupt changes may lead to adverse health outcomes. If you experience severe symptoms such as bleeding, infection, or allergic reactions, seek emergency care immediately.
Exclusion Criteria (ineligible for testing)
- Inability to provide informed consent; guardianship is required for minors in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Active acute illness potentially interfering with sample integrity, such as high fever or sepsis.
- Pregnant individuals in whom venipuncture is contraindicated on clinical assessment.
Emergency Red Flags
Immediate emergency care is warranted if you develop sudden severe facial pain, joint swelling, skin lesions with purulent discharge or bleeding, signs of anaphylaxis including difficulty breathing or tongue/throat swelling, or any other new and severe symptom.
Patient FAQ & Clinical Guidance
1. How is the MASP1 genetic test performed?
A peripheral whole blood specimen is collected via standard venipuncture at a DHA-licensed facility or through our VIP mobile phlebotomy service. Genomic DNA is extracted and subjected to targeted NGS analysis covering the entire MASP1 coding region and flanking intronic boundaries. Results are typically available within 3 to 4 weeks and are interpreted by a board-certified clinical geneticist.
2. What conditions are associated with MASP1 mutations?
Pathogenic variants in MASP1 cause 3MC syndrome type 1, an autosomal recessive disorder presenting with craniofacial clefting, skin pits, immune deficiency, and skeletal abnormalities. Phenotypic expression is highly variable; therefore, genetic confirmation is essential for accurate prognosis and family counselling.
3. Is genetic counselling required before testing?
Pre-test genetic counselling is strongly recommended to discuss the implications of possible results, review family pedigree, obtain informed consent, and coordinate sample collection. Our genetics team provides telephonic counselling sessions prior to testing upon request.
4. What is the turnaround time for results?
The standard turnaround time is 21 to 28 calendar days from sample receipt in the laboratory. Urgent clinical cases may be expedited with prior coordination; please contact our molecular genomics team at +971 54 548 8731 to discuss expedited processing options.
UAE Regulatory & Data Privacy Adherence
All genetic data processing, storage, and transmission comply with the following UAE legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governs the lawful collection, processing, and retention of personal genomic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ mandates cybersecurity standards for digital health records and telemedicine communications.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ defines clinical governance, informed consent protocols, and patient safety standards applicable to genetic testing.
DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA) and operates under an integrated management system certified to ISO 9001:2015.
Clinical & Logistical Metadata
| Test Name | MASP1 Gene 3MC Syndrome Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 94041-1 |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
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.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians