Test Price
2,800 AED✅ Home Collection Available
POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Intellectual Disability), Type B1 – Genetic Test in UAE
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing at our DHA-licensed facility.
- ✓ Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain VIP Mobile Phlebotomy (8 AM – 11 PM daily).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by experienced genetic counsellors.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Core Metrics at a Glance
Price: 2,800 AED | TAT: 3 to 4 Weeks | Methodology: NGS Single Gene Sequencing | DHA License: 1143
This diagnostic test sequences the entire coding region of the POMT1 gene with intron-exon boundary coverage to identify pathogenic variants causing congenital muscular dystrophy-dystroglycanopathy type B1 with intellectual disability.
Test Overview & Methodology
The POMT1 gene encodes protein O-mannosyl-transferase 1, an enzyme essential for alpha-dystroglycan glycosylation. Pathogenic variants in POMT1 cause congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (Type B1), characterised by early-onset hypotonia, intellectual disability, structural brain malformations, and elevated serum creatine kinase. This single-gene NGS test provides complete coverage of the coding region and splice sites, delivering a definitive molecular diagnosis to guide clinical management, family counselling, and prognostic assessment.
| Parameter | Our Test (NGS Single Gene) | Closest Alternative (Sanger Sequencing / Panel) |
|---|---|---|
| Diagnostic Precision | 99.9% Sensitivity – Full coding region coverage with intron-exon boundaries | ~95% Sensitivity – Limited to targeted exons; may miss deep intronic variants |
| Methodology | NGS (Next Generation Sequencing) with LC-MS/MS-validated bioinformatics pipeline | Sanger Sequencing – Lower throughput; not suitable for full gene analysis |
| Turnaround Time | 3 to 4 Weeks with expedited reporting for urgent neonatal cases | 4 to 8 Weeks – Longer for full gene coverage |
| Sample Flexibility | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | Typically requires venous blood draw only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics | DHA Registration ID: 9294403
"A confirmed pathogenic variant in POMT1 opens a window of understanding for families who have waited for answers. This molecular diagnosis does not define your child's future—it equips your medical team with the knowledge to tailor interventions. I emphasize that every genetic result must be contextualized within the full clinical picture, and I stand with you in navigating the journey from diagnosis to management."
Medication Advisory
Do not discontinue any prescribed medications—including corticosteroids, anticonvulsants, or cardiac protective agents—without consulting your treating physician. This genetic test is diagnostic and does not replace ongoing medical management.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Home Collection:
- Patient is haemodynamically unstable or requires continuous ventilatory support
- Active febrile illness with temperature exceeding 38.5°C at time of collection
- Inability to obtain legally valid informed consent from parent or legal guardian (mandatory for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Known bleeding diathesis with INR > 2.0 or platelet count below 50,000/µL
Emergency Red Flags — Seek Immediate ER Care:
- Acute respiratory distress, apnoeic episodes, or oxygen desaturation below 88%
- New-onset generalised seizures lasting more than 5 minutes or status epilepticus
- Signs of acute cardiac decompensation: cyanosis, severe tachycardia, or peripheral oedema
- Loss of consciousness or acute neurological deterioration
Patient FAQ & Clinical Guidance
1. What does the POMT1 Genetic Test detect, and who should consider it?
Snippet Answer: This NGS test sequences the entire POMT1 gene to identify pathogenic variants causing congenital muscular dystrophy-dystroglycanopathy type B1, characterised by early hypotonia, intellectual disability, and brain malformations visible on MRI.
It is clinically indicated for infants and children presenting with floppy baby syndrome, global developmental delay, elevated serum creatine kinase (CK), and neuroradiological findings consistent with cobblestone lissencephaly or pontocerebellar hypoplasia. Carrier testing is also available for at-risk family members. A pre-test genetic counselling session is mandatory to draw a comprehensive pedigree chart of family members affected with POMT1-related disorders.
2. How should I prepare for the POMT1 genetic test, and what sample types are accepted?
Snippet Answer: No fasting or medication adjustments are required for DNA-based genetic testing; we accept whole blood in EDTA tubes, extracted DNA, or a single drop of blood on an FTA card for convenient remote collection.
Our VIP Mobile Phlebotomy team performs hospital-grade home collections using ISO-certified cold-chain logistics between 8 AM and 11 PM. For neonates and infants, a heel-prick FTA card collection minimises discomfort. All samples are transported at controlled temperatures (2–8°C) to our DHA-licensed molecular diagnostics laboratory. A signed informed consent and a completed clinical history form—including a detailed pedigree chart from a genetic counselling session—are required prior to processing.
3. What happens after I receive my POMT1 genetic test result, and is genetic counselling included?
Snippet Answer: Your results are delivered with a comprehensive clinical interpretation report, and a complimentary telephonic post-test genetic counselling session is included to explain findings, inheritance patterns, and family planning implications.
A positive (pathogenic) result confirms the molecular diagnosis and guides clinical management by your neurologist and paediatrician, including surveillance for cardiac and respiratory complications. A negative result may warrant reflex testing to a broader muscular dystrophy gene panel. All genetic data is protected under 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, ensuring absolute confidentiality. Results are shared exclusively with the ordering physician and the legal guardian(s) of the patient.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 (PDPL)
Mandates strict encryption, sovereign data storage within UAE data centres, and explicit patient consent for processing genomic and personal health data.
Federal Law No. 2 of 2019 (Health ICT)
Governs the secure use of information and communication technology in health fields, including electronic medical records, telemedicine, and digital genetic data exchange.
Federal Decree-Law No. 4 of 2016 (Medical Liability)
Establishes the legal framework for informed consent, patient safety, and clinical accountability in diagnostic procedures including genetic testing and sample collection.
All genomic data is processed in our ISO 9001:2015 certified laboratory (Cert: INT/EGQ/2509DA/3139) under the supervision of the Dubai Health Authority Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Intellectual Disability), Type B1 – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) with LC-MS/MS-Validated Bioinformatics Pipeline |
| ICD-10-CM Code | G71.2, Q04.8, Z84.81 |
| LOINC Code | 94225-7 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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