Test Price
2,800 AED✅ Home Collection Available
POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A8 Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: Analytical sensitivity >99.9% via ISO-accredited next-generation sequencing full-gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection — available daily from 8 AM to 11 PM.
- Post‑Test Clinical Counselling: Telephonic guidance session with a Consultant Medical Genetics to interpret results and outline management.
- Insurance Verification: Real‑time coverage check via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test interrogates the entire POMGNT2 gene to identify pathogenic variants causing congenital muscular dystrophy-dystroglycanopathy type A8, which manifests with brain and eye malformations, delivering a definitive molecular diagnosis.
The analysis covers all coding exons, splice‑site junctions, and ±20 bp intronic boundaries with validated depth for accurate variant detection.
| Property | Our NGS Test | Closest Alternative (Single‑Gene Sanger Sequencing) |
|---|---|---|
| Method | NGS (Next Generation Sequencing) with full gene coverage | Sanger sequencing of pre‑selected exons only |
| Diagnostic Precision | >99.9% analytical sensitivity & specificity; detects all exonic and splice‑site variants | Limited to targeted regions; may miss deep intronic or regulatory variants |
| Turnaround Time | 3–4 weeks | Often >6 weeks (iterative primer design) |
| Coverage | All coding exons ±20 bp intronic boundaries; clinically validated depth | Incomplete gene coverage; risk of false‑negative results |
Physician Insight & Safety Protocols
“As a Consultant in Medical Genetics, I recognise the emotional weight behind seeking a molecular diagnosis for your child. The POMGNT2 sequencing test offers clarity in identifying the genetic basis of congenital muscular dystrophy with brain and eye involvement. Results must always be correlated with comprehensive clinical, neuroimaging, and ophthalmological assessments. I strongly recommend pre‑ and post‑test genetic counselling to ensure informed decision‑making and appropriate family planning.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Important Clinical Advisory
This test is intended to support clinical diagnosis and should never be used as the sole basis for treatment decisions. Do not alter or discontinue any current therapy, including muscle‑supportive or anticonvulsant medications, without explicit guidance from your treating neurologist or primary physician. All variant interpretations should be reviewed in a multidisciplinary context.
🚨 Safety Exclusion Criteria & Urgent Red Flags
- Exclusion Criteria: Active febrile illness, blood transfusion within the past two weeks, known coagulation disorder contraindicating venipuncture, or inability to provide an adequate specimen.
- Seek Emergency Care Immediately If: Sudden respiratory distress, acute choking or swallowing difficulty, rapid loss of vision, or new‑onset seizures occur. These symptoms require urgent neurological assessment independent of test scheduling.
Patient FAQ & Clinical Guidance
1. What is the POMGNT2 gene test used for?
This test diagnoses congenital muscular dystrophy-dystroglycanopathy type A8 by identifying POMGNT2 gene mutations with high precision. It confirms the molecular cause of brain and eye anomalies associated with this severe form of dystroglycanopathy, enabling precise genetic counselling and family planning.
2. What sample types are accepted and how should I prepare?
Accepted samples are whole blood, extracted DNA, or a dried blood spot on FTA card. We recommend clinical genetic counselling before collection. A genetic counsellor will draw a detailed pedigree to ensure the correct testing strategy. For children, a specialised paediatric phlebotomist performs the collection. VIP mobile phlebotomy is available from 8 AM to 11 PM daily.
3. How long do results take and what happens after?
Results are ready in 3 to 4 weeks. A telephonic post‑test clinical guidance session interprets the findings in your medical context. You will receive a comprehensive report with identified variants, pathogenicity classifications, and specific recommendations for ongoing neurological, ophthalmological, and developmental monitoring.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled under the strict privacy provisions of 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 clinical procedures and patient consent protocols align with Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring ethical standards and legal safety throughout the testing pathway.
Clinical & Logistical Metadata
| Test Name | POMGNT2 Gene Sequencing – Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 (NGS) |
| Price (AED) | 2 800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood in EDTA tube, extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full gene coverage including coding exons and splice‑site boundaries |
| ICD-10-CM Code | G71.2 |
| LOINC Code | 90590-1 |
| DHA Facility License & Lab Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians