Test Price
2,800 AED✅ Home Collection Available
B3GALNT2 Gene NGS Test for Congenital Muscular Dystrophy with α‑Dystroglycan Hypoglycosylation in UAE
Executive Summary & Core Metrics
- ✅Diagnostic Accuracy 99.9% – Achieved through ISO 9001:2015 certified processing (Certificate No. INT/EGQ/2509DA/3139) in accordance with latest E‑E‑A‑T standards.
- 🚚VIP Mobile Phlebotomy & Temperature-Controlled Home Collection – ISO‑certified cold chain transport, available daily from 8 AM to 11 PM.
- 📞Post-Test Medical Guidance – Telephonic consultation with our specialist physicians for result interpretation.
- 🛡️Direct Insurance Verification – Via WhatsApp at +971 54 548 8731 before proceeding with the test.
Test Overview & Methodology
The B3GALNT2 gene NGS test identifies pathogenic variants causing congenital muscular dystrophy‑dystroglycanopathy with abnormal glycosylation of α‑dystroglycan, enabling precise diagnosis, carrier screening, and family planning. This genetic test provides comprehensive detection of mutations associated with this condition.
| Parameter | Our NGS Test | Standard Sanger Panel |
|---|---|---|
| Method | Full‑gene Next‑Generation Sequencing (Illumina®) | Sanger sequencing of select exons |
| Coverage | >99% of coding regions & splice sites | Partial – only a few exons |
| Turnaround | 3 – 4 Weeks | 6 – 8 Weeks |
| Clinical Utility | Comprehensive variant detection for dystroglycanopathy | Limited to known hotspots |
Physician Insight & Safety Protocols
Genetic testing for B3GALNT2 should always be interpreted in conjunction with clinical phenotype and family history. A negative result does not rule out the diagnosis, and a positive finding requires comprehensive genetic counseling. I recommend discussing all results with a neurologist specialized in neuromuscular disorders.
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Warning
⚠️ Medication Warning
Do not discontinue any prescribed medication without consulting your doctor. Modifying treatment based solely on a genetic test may be hazardous.
Exclusion Criteria & Emergency Red Flags
🚨 Exclusion Criteria & ER Red Flags
- Absence of clinical suspicion for congenital muscular dystrophy-dystroglycanopathy.
- Critical medical conditions requiring immediate surgical intervention or intensive care.
- Inability to provide informed consent or undergo pre-test genetic counseling.
🔴 Emergency Signs: Seek immediate medical care if you experience rapidly progressive muscle weakness leading to breathing difficulty, severe swallowing problems, or loss of ability to walk.
Patient FAQ & Clinical Guidance
1. What does a positive B3GALNT2 test mean?
A positive NGS result indicates a genetic alteration associated with congenital muscular dystrophy‑dystroglycanopathy. This must be confirmed by your neurologist with clinical phenotype and family history. Genetic counseling is strongly recommended.
2. How is the test performed?
A simple blood draw, extracted DNA, or one drop on an FTA card is collected via our ISO‑certified cold‑chain home service. No fasting is required. If you prefer, you may visit our facility in Dubai Healthcare City.
3. Is this test covered by insurance in the UAE?
We verify your insurance directly via WhatsApp at +971 54 548 8731. Many UAE health insurance plans cover genetic testing when prescribed by a DHA‑licensed neurologist or geneticist.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with 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 patient data is encrypted and handled with strict confidentiality. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | B3GALNT2 Gene NGS Test for Congenital Muscular Dystrophy with α‑Dystroglycan Hypoglycosylation |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (Illumina®) |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 62357-4 |
| DHA Facility License & Laboratory Address | DHA 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