Test Price
2,800 AED✅ Home Collection Available
DNAJB6 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1E (LGMD1E) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing with copy number variant detection.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test genetic counselling session included with every report.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DNAJB6 gene NGS test identifies pathogenic variants responsible for autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), a progressive neuromuscular condition. This gold-standard genetic analysis from a DHA-licensed facility combines comprehensive sequencing with expert clinical interpretation for definitive diagnosis or carrier confirmation.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | Full gene NGS with CNV detection, >99.9% analytical sensitivity | Targeted variant testing only (limited to known family mutation) |
| Method | Paired-end short-read sequencing plus MLPA, ACMG guidelines | Sanger sequencing of single exon; misses deep intronic variants |
| Speed & Support | 3–4 week TAT, VIP home collection, post-test genetic counselling call | 6–8 weeks; sample drop-off only, no guided interpretation |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): A positive DNAJB6 variant confirms LGMD1E but must always be correlated with muscle biopsy findings and functional decline. A negative NGS result does not exclude other limb-girdle muscular dystrophies; whole-exome sequencing may be warranted. This report should be integrated into the care plan with involvement of a neurologist or clinical geneticist for optimal patient management.
Advisory Notice
Never alter or cease any prescribed therapy without direct consultation with your treating physician. This genetic result is intended to inform clinical decision-making, not to replace professional medical advice.
Exclusion Criteria & Emergency Red Flags
- Home collection is not authorized for patients with unstable angina, acute myocardial infarction, decompensated heart failure, or uncontrolled arrhythmia.
- Individuals with active febrile illness (>38.5°C), severe sepsis, or acute neurological crisis (status epilepticus, suspected meningitis) should defer sample collection and seek immediate hospital care.
- Sudden severe muscle weakness causing a fall, difficulty breathing, or swallowing requires emergency department evaluation for possible rapid disease progression or superimposed critical illness.
- Minors and individuals under legal guardianship require signed informed consent per UAE Child Rights Law (Wadeema’s Law).
Patient FAQ & Clinical Guidance
1. How accurate is the DNAJB6 NGS test for diagnosing LGMD1E?
This NGS test achieves over 99.9% analytical sensitivity for single nucleotide variants and small indels in the DNAJB6 gene when performed on a high-quality blood sample. Variant classification follows ACMG standards and is confirmed by orthogonal methods when necessary.
2. Can I use a dried blood spot on FTA card instead of venous blood for this test?
Yes, one drop of blood on an FTA card is a validated sample type for this analysis. However, whole blood collected in an EDTA tube remains the gold standard for maximum DNA yield and library quality, ensuring the highest diagnostic confidence.
3. What happens if the test finds a variant of uncertain significance (VUS) in DNAJB6?
A VUS is reported with detailed in-silico prediction and a recommendation for family segregation studies. It is not considered a positive diagnosis until additional clinical or functional evidence supports pathogenicity. Genetic counselling is strongly advised.
UAE Regulatory & Data Privacy Adherence
All genetic testing and data handling comply 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification and operates under DHA Facility License 1143.
Clinical & Logistical Metadata
| Test Name | DNAJB6 Gene Limb-Girdle Muscular Dystrophy, Autosomal Dominant Type 1E (LGMD1E) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA tube) or dried blood spot (FTA card); VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV detection and MLPA confirmation |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 85726-1 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians