Test Price
2,800 AED✅ Home Collection Available
LDB3 Gene Myofibrillar Myopathy (ZASP-Related) Genetic Test in UAE | 2800 AED | DHA Compliant
Executive Summary & Core Metrics
This DHA-licensed molecular diagnostics test provides definitive genetic confirmation of myofibrillar myopathy caused by LDB3 (ZASP) gene mutations using ISO-accredited Next-Generation Sequencing. The test is exclusively interpreted by Consultant Medical Genetics specialists and delivered with full PDPL-compliant data protection.
- Diagnostic Accuracy: 99.9% analytical sensitivity and specificity for point mutations, small indels, and copy number variants
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM to 11 PM)
- Post-Test Support: Telephonic clinical guidance from our Consultant Medical Genetics specialist
- Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731
- Regulatory Framework: DHA Facility License No. 1143 | ISO 9001:2015 Certified Laboratory
Test Overview & Methodology
The LDB3 Gene Myofibrillar Myopathy (ZASP-Related) Genetic Test employs whole-exome sequencing of the LDB3 coding region to detect pathogenic variants responsible for this rare, progressive neuromuscular disorder. The assay is designed for patients presenting with distal myopathy, cardiomyopathy, or suspected myofibrillar pathology. Results are correlated with clinical phenotype and family history by a board-certified Consultant Medical Geneticist.
| Feature | Our Test (NGS – DHA Compliant) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene coverage, intronic boundaries, CNV detection) | Single-exon Sanger sequencing (limited coverage) |
| Diagnostic Sensitivity | >99.9% (detects point mutations, small indels, copy number variants) | ~85% (misses large rearrangements and CNVs) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Regulatory Compliance | DHA Licensed (No. 1143), ISO 9001:2015, PDPL 2021 | Often lacks integrated quality management certification |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"The LDB3 gene encodes ZASP protein critical for sarcomere integrity. Pathogenic variants in this gene produce a characteristic myofibrillar pathology that can be challenging to diagnose without molecular confirmation. This NGS-based test provides the granularity needed to detect exon-level deletions and splice-site variants that Sanger sequencing routinely misses. I strongly encourage patients to review their genetic results with a neurologist or clinical geneticist who can map the mutation onto the full spectrum of cardiac and skeletal muscle involvement. Genetic counselling is recommended for all first-degree relatives to assess inheritance risk and enable early intervention."
Critical Advisory for Patients
Never stop, alter, or skip any prescribed medication without explicit instruction from your treating physician. Abrupt discontinuation of cardiac or neuromuscular therapies can precipitate life-threatening arrhythmias, respiratory compromise, or acute rhabdomyolysis. Always carry your current medication list and genetic report during emergency visits.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Asymptomatic individuals without confirmed family history unless preceded by professional genetic counselling
- Minors without explicit written parental or guardian consent in accordance with UAE federal regulations
- Patients on high-dose anticoagulant therapy that precludes safe venipuncture (physician clearance required)
Emergency Red Flags
Seek immediate emergency care if you experience:
- Sudden severe muscle weakness affecting breathing or swallowing
- New-onset cardiac arrhythmia, chest pain, or palpitations
- Dark-coloured urine accompanied by muscle pain (possible rhabdomyolysis)
Patient FAQ & Clinical Guidance
1. What is the LDB3 Gene Myofibrillar Myopathy NGS Test?
This is a comprehensive molecular genetic test that sequences the entire coding region and exon-intron boundaries of the LDB3 gene using Next-Generation Sequencing. It identifies pathogenic mutations associated with ZASP-related myofibrillar myopathy, achieving >99.9% diagnostic sensitivity for affected individuals and at-risk family members. Results are interpreted by a Consultant Medical Geneticist and correlated with your clinical presentation.
2. How accurate is the test and how is my genetic data protected?
The NGS platform delivers analytical sensitivity and specificity exceeding 99.9% for single nucleotide variants, small insertions/deletions, and copy number alterations. The laboratory operates under ISO 9001:2015 quality management. Your genetic data is encrypted and stored in 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. Results are shared only with you and your designated physician.
3. How should I prepare for sample collection and what is the process?
No special preparation such as fasting is required. A licensed phlebotomist will collect a peripheral whole blood sample (approximately 5 mL) at your preferred location through our VIP Mobile Phlebotomy service, operating daily from 8 AM to 11 PM. The sample is transported under continuous temperature-controlled cold-chain conditions to our DHA-licensed laboratory in Dubai Healthcare City. Alternatively, a buccal swab or blood spot on an FTA card may be used for remote collection.
4. What do my results mean and will I receive counselling?
Your report will classify each detected variant according to ACMG/AMP guidelines (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Benign). A telephonic consultation with our Consultant Medical Genetics specialist is included to explain the implications for you and your family. Genetic counselling for first-degree relatives is strongly recommended to assess carrier status and discuss reproductive options. Federal Decree-Law No. 4 of 2016 on Medical Liability governs the clinical safety and informed consent procedures associated with this testing pathway.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal information collected during this test is processed, stored, and transmitted in strict compliance with the PDPL. You retain the right to access, correct, or request deletion of your data. No information is shared with third parties without your explicit written consent.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our laboratory information management system (LIMS) and telehealth communication channels adhere to this law, ensuring secure electronic health records, encrypted result delivery, and audited access logs.
Federal Decree-Law No. 4 of 2016 on Medical Liability: This test is performed under the clinical safety and informed consent provisions of this law. You will receive a detailed pre-test counselling summary and sign an informed consent document that outlines the scope, limitations, and confidentiality of genetic testing.
Clinical & Logistical Metadata
| Test Name | LDB3 Gene Myofibrillar Myopathy (ZASP-Related) Genetic Test – Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt at laboratory |
| Sample Type / Matrix | Peripheral Whole Blood (5 mL in EDTA tube), Buccal Swab, or FTA Blood Spot Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Whole Gene Coding Region & Exon-Intron Boundaries, CNV Analysis |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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