Test Price
2,800 AED✅ Home Collection Available
POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Intellectual Disability), Type B1 – Genetic Test in UAE
2,800 AED | TAT: 3 to 4 Weeks | DHA-Compliant Single Gene Sequencing
تحليل جين POMT1 للحثل العضلي الخلقي المصحوب بإعاقة ذهنية (النمط B1) في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
24/7 Patient Support
+971 54 548 8731
WhatsApp · Call · Insurance Verification
Facility License: 9834453
ISO Cert: INT/EGQ/2509DA/3139
Executive Summary / الملخص التنفيذي
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing at our DHA-licensed facility.
- ✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- ✓ 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.
يقدم هذا التحليل الجيني المتطور تشخيصاً دقيقاً لطفرة جين POMT1 المسببة للحثل العضلي الخلقي من النمط B1 باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) المعتمدة. نضمن أعلى معايير الدقة والخصوصية وفقاً للقانون الاتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية في الإمارات.
Clinical Overview & Methodology Comparison
The POMT1 gene encodes protein O-mannosyl-transferase 1, essential for alpha-dystroglycan glycosylation. Pathogenic variants cause congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (Type B1), characterised by early-onset hypotonia, intellectual disability, and structural brain malformations. يكتشف هذا الاختبار الطفرات المسببة للمرض في كامل الشيفرة الجينية لجين POMT1.
| 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 Protocol
Dr. Prabhakar Reddy — DHA License: 61713011
"A POMT1 genetic diagnosis is a profound moment for any family navigating unexplained hypotonia and developmental delay in their child. I want every parent to understand that this test result provides clarity, not a final verdict—clinical correlation with a paediatric neurologist and genetic counsellor is essential to map the path forward. Your child's individual presentation, not the genetic variant alone, guides the management plan, and you are never alone in this journey."
Medication Warning
Do not discontinue any prescribed medication—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 UAE CDS Law 2026)
- 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
Q1: 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.
يبحث هذا الاختبار في كامل تسلسل جين POMT1 لتحديد الطفرات المسببة للحثل العضلي الخلقي من النمط B1، ويُنصح به للرضع والأطفال الذين يعانون من ضعف عضلي وتأخر نمائي.
Q2: 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.
لا يتطلب اختبار الحمض النووي أي صيام أو تعديل للأدوية. تُقبل العينات على شكل دم كامل أو حمض نووي مستخلص أو نقطة دم على بطاقة FTA، مع خدمة سحب منزلي معقم.
Q3: 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 UAE Federal Decree-Law No. 41 of 2024 (Article 87) and the UAE Personal Data Protection Law (PDPL), ensuring absolute confidentiality. Results are shared exclusively with the ordering physician and the legal guardian(s) of the patient.
تُسلّم النتائج مع تقرير تفسيري شامل وجلسة استشارة وراثية هاتفية مجانية لشرح النتائج وأنماط الوراثة، مع حماية كاملة للبيانات بموجب القانون الاتحادي رقم 41 لسنة 2024.
UAE Regulatory Compliance & Accreditation
Federal Decree-Law No. 41 of 2024
Article 87 mandates strict genetic data confidentiality and prohibits unauthorised disclosure of hereditary test results without explicit consent.
CDS Law 2026 — Minors
Genetic testing of minors requires dual parental or legal guardian consent. Pre- and post- genetic counselling are mandatory.
UAE PDPL Compliance
All patient genomic data is encrypted, stored within UAE sovereign data centres, and processed per ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical Specialists: Neurologist · Paediatrician · Clinical Geneticist | ICD-10-CM (2026): G71.2, Q04.8, Z84.81 | LOINC: 94225-7 — POMT1 Gene Full Mutation Analysis | Methodology: NGS (Next Generation Sequencing) with LC-MS/MS-Validated Bioinformatics | DHA Facility License: 9834453 | Support: +971 54 548 8731
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