Test Price
2,800 AEDโ Home Collection Available
POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3 Genetic Test in UAE
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% sensitivity achieved through ISO-certified next-generation sequencing (NGS) with full coding region coverage and CNV analysis.
Clinical Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM, with hospital-grade specimen handling.
Clinical Counseling: Post-test telephonic consultation with a consultant medical geneticist to discuss results, family screening, and therapeutic planning.
Insurance Verification: Direct insurance coverage check via WhatsApp at +971 54 548 8731 with pre-authorization support.
Test Overview & Methodology
This next-generation sequencing (NGS) test examines the entire coding region of the POMGNT1 gene to confirm a molecular diagnosis of limb-girdle muscular dystrophy-dystroglycanopathy type C3. The assay offers unparalleled analytical depth, detecting single nucleotide variants, small indels, and copy number variations for a definitive clinical answer. The POMGNT1 gene encodes an enzyme essential for normal muscle function; mutations cause dystroglycanopathies ranging from severe congenital forms to milder limb-girdle presentations. Confirming the genetic defect guides prognosis, family screening, and eligibility for emerging therapies.
Our Test vs. Closest Alternative
| Feature | Our NGS Test | Sanger Sequencing (Single Gene) |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) โ full gene coverage, CNV analysis | Sanger sequencing of selected exons only |
| Precision | 99.9% diagnostic sensitivity; all clinically relevant variants reported | May miss deep intronic mutations, large deletions/duplications |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks |
| Lab Certification | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), DHA Licensed Facility | Varies; may lack UAE-specific accreditation |
| Price | 2800 AED | Often higher for limited coverage |
Physician Insight & Safety Protocols
โReceiving a genetic diagnosis for limb-girdle muscular dystrophy provides molecular clarity that can be both empowering and sobering. This NGS test delivers precise variant identification, yet the results must always be contextualized within a complete neurological assessment and detailed family pedigree. I strongly recommend post-test genetic counseling to fully appreciate implications for disease trajectory, reproductive choices, and eligibility for emerging clinical trials.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Precautions
Medication Advisory:
Do not alter or discontinue any prescribed medications, including corticosteroids or cardiac therapies, without prior consultation with your treating physician. This genetic test is a diagnostic adjunct and does not substitute for ongoing multidisciplinary neuromuscular care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This genetic test requires written informed consent and a valid clinical referral from a licensed physician. It is not available for individuals unable to provide consent or without a documented medical indication, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Patients currently on anticoagulant therapy must inform the phlebotomist prior to blood draw; special precautions may be required during home collection.
- Emergency Red Flags: If you experience sudden worsening muscle weakness, difficulty breathing, swallowing difficulties, or cardiac symptoms such as palpitations or chest pain, seek immediate emergency medical assistance. This test is not a substitute for urgent clinical evaluation.
Patient FAQ & Clinical Guidance
1. What is the POMGNT1 gene test and why is it important?
Short answer: This DNA test sequences the POMGNT1 gene to diagnose limb-girdle muscular dystrophy type C3 with 99.9% analytical accuracy.
The POMGNT1 gene encodes an enzyme critical for normal muscle function. Pathogenic mutations lead to dystroglycanopathies, a spectrum of disorders ranging from severe congenital forms to the milder limb-girdle presentation. Molecular confirmation through this NGS test enables precise prognosis estimation, targeted family cascade screening, and evaluation for emerging gene-directed therapies.
2. How is the test performed and what is the turnaround time?
Short answer: A blood sample is collected at home by a DHA-licensed phlebotomist, with results available in 3 to 4 weeks.
After scheduling via WhatsApp, a certified phlebotomist arrives at your preferred location using ISO-certified cold-chain transport. The specimen (whole blood in EDTA, extracted DNA, or dried blood spot on FTA card) is processed using NGS with full gene coverage and CNV detection. The laboratory adheres to ISO 9001:2015 standards, and the final clinical report is reviewed by a consultant medical geneticist before release.
3. Is this genetic test covered by insurance in the UAE?
Short answer: Many UAE health insurance plans cover genetic testing for neuromuscular disorders when pre-authorized; our team verifies coverage directly via WhatsApp.
Contact our insurance support team at +971 54 548 8731. We will review your policy for molecular diagnostics coverage under DHA guidelines and assist with pre-authorization documentation. Direct billing arrangements are available with participating insurers.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and strictly adheres to the following UAE federal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is processed, stored, and transmitted with strict confidentiality controls, encryption protocols, and access governance.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure, including tele-counseling and electronic health records, complies with all ICT security and interoperability standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including informed consent for genetic testing and phlebotomy, are conducted in full compliance with medical liability regulations to ensure patient safety and legal accountability.
Clinical & Logistical Metadata
| Test Name | POMGNT1 Gene Sequencing โ Limb-Girdle Muscular Dystrophy-Dystroglycanopathy Type C3 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full coding region with CNV analysis |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 82373-2 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ 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