Test Price
2,800 AEDโ Home Collection Available
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A2, Genetic Test in UAE | AED 2,800
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity using ISO-certified processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post-Test Guidance: Telephonic consultation with a medical geneticist to review results.
- Insurance Verification: Direct billing check via WhatsApp at +971 54 548 8731.
- Licensed Facility: DHA Facility License No. 1143.
Test Overview & Methodology
The POMT2 Genetic Test detects mutations in the POMT2 gene linked to a severe form of congenital muscular dystrophy with brain and eye anomalies (MDDGA2), providing definitive molecular diagnosis for affected individuals and carrier status in families. This targeted next-generation sequencing assay covers the full coding region and splice sites at greater than 200x coverage, ensuring high analytical sensitivity for single nucleotide variants, indels, and copy number variations.
| Feature | Our Test (Precision NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Methodology | Targeted NGS for POMT2 gene (full coding region, splice sites, >200x coverage) | Whole Exome Sequencing (covers all genes, variable POMT2 coverage) |
| Analytical Sensitivity | 99.9% for single nucleotide variants, indels, CNVs in POMT2 | ~95โ98% for POMT2 due to potential coverage gaps |
| Turnaround Time | 3โ4 Weeks | 6โ12 Weeks |
| Clinical Focus | Dedicated to congenital muscular dystrophy-dystroglycanopathy A2 | Broad screening; incidental findings may require additional validation |
Physician Insight & Safety Protocols
"Genetic testing provides critical insights into the POMT2 gene, but results must always be interpreted in the context of the full clinical picture, including brain imaging and neurological assessment. Pre- and post-test genetic counseling is mandatory to discuss implications for family planning and disease management. Do not alter any prescribed treatments without consulting your physician."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Do Not Discontinue Prescribed Medication
Genetic test results are not a substitute for ongoing clinical care. Do not stop or adjust any prescribed medications, including muscle relaxants, anticonvulsants, or supportive therapies, without explicit consultation with your treating physician. Abrupt discontinuation may lead to serious complications.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: No prior genetic counseling session; incomplete clinical history or pedigree chart; use of unapproved sample types (e.g., saliva unless validated).
- Emergency Red Flags โ Seek immediate medical attention if the patient develops:
- Sudden or severe muscle weakness impairing mobility
- Breathing difficulties or respiratory distress
- Newโonset seizures or loss of consciousness
- Acute vision loss or severe eye pain
Patient FAQ & Clinical Guidance
1. What is the POMT2 gene test and who should consider it?
The POMT2 Genetic Test analyzes the POMT2 gene for mutations causing congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (MDDGA2). It is recommended for individuals with clinical symptoms such as hypotonia, developmental delay, brain malformations (e.g., cobblestone lissencephaly), and eye abnormalities like retinal dysplasia. It is also indicated for family members of affected individuals to determine carrier status. Pre- and post-test genetic counseling is mandatory.
2. How is the sample collected and what is the turnaround time?
Sample collection is via VIP Mobile Phlebotomy at your home between 8 AM and 11 PM daily. A healthcare professional will draw a whole blood sample or collect a dried blood spot on an FTA card. The specimen is transported using an ISO-certified cold chain to our laboratory. Results are typically available within 3 to 4 weeks from sample receipt. For urgent inquiries, contact us via WhatsApp at +971 54 548 8731.
3. Is this test covered by insurance and how do I verify?
Many UAE health insurance providers cover genetic testing when medically necessary, especially with a confirmed clinical suspicion. To verify your coverage, send a clear photo of your insurance card and policy number via WhatsApp to +971 54 548 8731. Our team will confirm eligibility and process direct billing where applicable, minimizing out-of-pocket expenses.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to the 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. All genetic data is encrypted, access-controlled, and used solely for the purpose of clinical diagnosis and counseling. Your privacy is paramount.
Clinical & Logistical Metadata
| Test Name | POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A2, Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) โ Full Gene Coverage, >200x |
| ICD-10-CM Code | G71.2 |
| LOINC Code | 83580-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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