Test Price
2,800 AED✅ Home Collection Available
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 Genetic Test – AED 2,800
Executive Summary & Core Metrics
- ● 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited next‑generation sequencing (NGS) – every single nucleotide of the POMT2 coding region and splice junctions is interrogated with a minimum 100× depth.
- ● Premium Hospital‑Grade Home Collection: ISO‑certified cold‑chain logistics maintain sample integrity from your home, office, or hotel; VIP mobile phlebotomy available 8 AM–11 PM daily across all seven emirates.
- ● Telephonic Post‑Test Clinical Guidance: a 20‑minute result interpretation session with one of our DHA‑licensed genetic counsellors is included, ensuring you and your referring neurologist receive actionable insights.
- ● Direct Insurance Billing Verification via WhatsApp +971 54 548 8731 – we handle pre‑authorisation with all major UAE networks (Daman, AXA, Neuron, etc.).
📋 Quick Reference
AED 2,800
Turnaround: 3–4 Weeks
Sample: Blood / FTA Card / DNA
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
Test Overview & Methodology
The POMT2 Genetic Test provides a definitive molecular diagnosis of limb‑girdle muscular dystrophy‑dystroglycanopathy type C2 (LGMD‑dystroglycanopathy C2) by sequencing the entire protein‑coding region of the POMT2 gene—the only way to confirm the disorder at the DNA level. This advanced NGS technology ensures detection of pathogenic mutations even in complex familial cases.
| Parameter | Our Test – POMT2 NGS | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – simultaneous reading of the full gene | Sanger sequencing – limited to one exon at a time |
| Depth of Coverage | ≥100× for all coding nucleotides | Single‑pass; may miss low‑level mosaicism |
| Turnaround Time | 3–4 weeks | 4–6 weeks (often batch‑dependent) |
| Report Content | Full ACMG classification, variant interpretation, and clinical correlation suggestions | Only raw variant list without clinical annotation |
Physician Insight & Safety Protocols
"Every POMT2 result must be interpreted within the full clinical picture—neuroimaging, muscle MRI, creatine kinase levels, and functional assessments. A negative NGS does not exclude the diagnosis if clinical suspicion is high, as deep intronic or regulatory variants may require whole‑genome sequencing. I strongly advise patients and families to never stop prescribed steroids, cardiac medications, or respiratory support solely based on this genetic report; always discuss any changes with your treating neurologist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue, adjust, or add any prescribed medication (including corticosteroids, anti‑myotonic agents, or supplements) without consulting your physician. Genetic test results inform long‑term management but do not replace acute clinical judgment.
🚨 Exclusion Criteria & Emergency Red Flags
- Absolute exclusion: individuals with active bleeding disorders or platelet count <50×10⁹/L unless medically cleared by a haematologist for venipuncture. If FTA card collection is planned, ensure the card is not contaminated and the area is clean.
- Relative exclusion: severe needle phobia or vasovagal syncope history—the VIP mobile phlebotomy team is equipped for supine collection with a butterfly needle when arranged in advance.
- ER red flags (unrelated to the test but requiring immediate medical attention): sudden loss of ambulation, respiratory distress, or cardiac arrhythmia in a patient with known LGMD; these warrant emergency hospital evaluation irrespective of test timing.
- For minors: consent must be given by a legal guardian in accordance with UAE Federal Law No. 2 of 2019 and Federal Decree‑Law No. 4 of 2016 on Medical Liability; the child should be accompanied throughout the home visit.
Patient FAQ & Clinical Guidance
1. What exactly does the POMT2 gene test diagnose, and how is it different from a muscle biopsy?
A: This NGS test definitively identifies pathogenic mutations in the POMT2 gene that cause limb‑girdle muscular dystrophy‑dystroglycanopathy type C2, offering a non‑invasive molecular diagnosis that replaces the need for invasive muscle biopsy in most cases.
2. How is the sample collected, and what do I need to prepare before the home visit?
A: A trained phlebotomist draws 2–3 mL of blood from your arm (or collects a drop of blood on an FTA card) during the home visit; no fasting is required, but please hydrate well and have your Emirates ID ready for verification. The VIP mobile phlebotomy service operates daily from 8 AM to 11 PM, including weekends.
3. Do I need genetic counselling before or after the test, and is it included in the price?
A: Yes, a pre‑test genetic counselling session (pedigree charting) is mandatory per DHA guidelines, and one post‑test telephone interpretation session is included without additional charge; additional family counselling can be arranged upon request.
UAE Regulatory & Data Privacy Adherence
Data processed under UAE 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. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory DHA Facility License: 1143. All NGS reports follow ACMG/AMP guidelines.
Clinical & Logistical Metadata
| Test Name | POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Blood / FTA Card / DNA) – available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coding Region and Splice Junctions |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 82959-1 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, 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