Test Price
2,800 AED✅ Home Collection Available
MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test - 2,800 AED
Executive Summary & Core Metrics
Core Metrics
- Accuracy: >99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS targeted sequencing.
- Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection (8 AM to 11 PM daily).
- Clinical Guidance: Telephonic post-test result interpretation with a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The MYBPC1 gene test utilizes next-generation sequencing (NGS) to detect pathogenic variants associated with Lethal Congenital Contracture Syndrome Type 4 (LCCS4), an autosomal recessive disorder characterized by multiple joint contractures, muscle atrophy, and respiratory failure at birth. Our targeted NGS approach ensures comprehensive coverage of the MYBPC1 coding regions with greater than 99.9% sensitivity and specificity, confirmed by Sanger sequencing.
| Feature | Our Test (NGS Targeted Sequencing) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | 100% coverage of MYBPC1 coding regions with >99.9% sensitivity | Broader analysis but lower depth; variants may be missed |
| Methodology | NGS with Sanger confirmation | Whole exome NGS, often without dedicated coverage compensation |
| Turnaround Time | 3 to 4 Weeks | 6–12 Weeks (often longer due to incidental findings analysis) |
| Cost | 2,800 AED | 4,200–6,000 AED typical |
Physician Insight & Safety Protocols
"Genetic testing for Lethal Congenital Contracture Syndrome Type 4 requires careful interpretation in conjunction with clinical findings and family pedigree analysis. Our targeted NGS approach, followed by Sanger confirmation, ensures high sensitivity for MYBPC1 variants, enabling accurate diagnosis and meaningful genetic counselling for affected families."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠️ Do not discontinue prescribed medication without consulting your doctor. This test does not replace clinical management.
Exclusion Criteria & Emergency Red Flags
- Not indicated for asymptomatic adults without a confirmed family history of MYBPC1-related myopathy.
- ER Red Flags: Sudden worsening of joint contractures, respiratory distress in neonates, severe feeding difficulties or failure to thrive.
- Specimen rejection: Improperly stored FTA card or clotted whole blood; recollection will be arranged at no extra charge.
Patient FAQ & Clinical Guidance
1. What is the purpose of the MYBPC1 gene test?
This NGS test identifies pathogenic variants in the MYBPC1 gene to confirm a diagnosis of Lethal Congenital Contracture Syndrome Type 4. It is typically ordered for newborns or infants presenting with multiple joint contractures, muscle atrophy, and respiratory insufficiency, enabling precise genetic counselling and family risk assessment.
2. How is the sample collected?
A small amount of whole blood or a drop on an FTA card is collected via painless venipuncture at home or in a clinic. Our DHA-certified phlebotomists follow cold-chain protocols, and collection can be scheduled between 8 AM and 11 PM daily.
3. How accurate is the test?
With >99.9% sensitivity and specificity under ISO 9001:2015 accredited NGS, results exceed international diagnostic standards. Every pathogenic variant is confirmed by Sanger sequencing to eliminate false positives.
UAE Regulatory & Data Privacy Adherence
This service strictly adheres to 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 testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed with encryption and stored locally in UAE sovereign cloud infrastructure.
DHA Facility License Number: 1143 | Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q68.8 |
| LOINC Code | 21633-5 |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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