Test Price
2,800 AED✅ Home Collection Available
ZMPSTE24 Gene Genetic Test for Mandibuloacral Dysplasia with Type B Lipodystrophy in Dubai – 2800 AED
Executive Summary & Core Metrics
Executive Summary: Advanced NGS-based genetic test targeting the ZMPSTE24 gene, delivering 99.9% diagnostic sensitivity for mandibuloacral dysplasia with type B lipodystrophy. Processed in an ISO 9001:2015 accredited laboratory with VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic post-test counselling with a Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731 (Support: +971545488731).
Test Overview & Methodology
The ZMPSTE24 NGS test interrogates the entire coding region and splice sites of the ZMPSTE24 gene using next-generation sequencing, detecting pathogenic variants responsible for mandibuloacral dysplasia with type B lipodystrophy — a rare autosomal recessive disorder affecting cutaneous, skeletal, and metabolic systems. Our integrated interpretation is overseen by a multidisciplinary panel of clinical geneticists, dermatologists, and endocrinologists, ensuring clinically actionable reports aligned with international consensus guidelines.
Pre-test Preparation: A formal genetic counselling session with pedigree analysis of family members affected by ZMPSTE24-related conditions is required before sample collection. This ensures appropriate test indication and compliance with UAE genetic testing regulations under Federal Decree-Law No. 4 of 2016 on Medical Liability.
| Feature | Our ZMPSTE24 NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Precision | Full gene sequencing covering exons, splice sites, and deep intronic regions with >99% sensitivity for all variant types | Limited to preselected exons; misses deep intronic and copy-number variants |
| Methodology | Next-Generation Sequencing (NGS) – ISO 9001:2015 validated | Sanger chain-termination dideoxy sequencing |
| Turnaround | 3–4 Weeks | 6–8 Weeks (often requiring re-runs) |
| Variant Detection | SNVs, indels, splice-site variants, and CNVs | Only known point mutations in targeted exons |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasise that a positive ZMPSTE24 result provides the molecular confirmation of mandibuloacral dysplasia with type B lipodystrophy, yet clinical severity must always be correlated with the patient's dermatological, endocrine, and skeletal presentations. Our multidisciplinary approach integrates your genetic report with personalised counselling, guiding both diagnosis and family cascade screening.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Safety Protocols
All specimen collection procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. Patients must provide written informed consent prior to genetic testing. Do not discontinue prescribed medications without consulting your physician; certain metabolic and dermatological treatments must be maintained during the testing period. Abrupt cessation may worsen clinical symptoms.
Exclusion Criteria and Emergency Red Flags
- Inability to provide a blood sample (severe anaemia, inaccessible veins) or lack of informed consent.
- Active acute metabolic decompensation, including profound hypoglycaemia, ketoacidosis, or severe electrolyte imbalance — seek emergency care before test scheduling.
- If you develop sudden chest pain, loss of consciousness, or signs of cutaneous infection, delay the test and visit the nearest emergency department immediately.
Note: This test is intended for diagnostic and genetic counselling purposes only. A negative result does not exclude other forms of lipodystrophy or unrelated syndromes. Clinical correlation with a Consultant Medical Geneticist is essential.
Patient FAQ & Clinical Guidance
1. What is the ZMPSTE24 genetic test and who should consider it?
The ZMPSTE24 genetic test is a comprehensive NGS-based assay that detects pathogenic variants in the ZMPSTE24 gene causing mandibuloacral dysplasia with type B lipodystrophy. It is recommended for individuals presenting with progressive subcutaneous fat loss, acro-osteolysis, mandibular hypoplasia, and skin atrophy, typically referred by a dermatologist, clinical geneticist, or endocrinologist. A formal genetic counselling session with pedigree analysis is required prior to testing.
2. How is the test performed and what is the turnaround time?
A certified phlebotomist collects a small peripheral blood sample at your home using a temperature-controlled cold-chain kit, or you may visit our Dubai Healthcare City facility. The sample is transported under ISO-validated cold-chain conditions to our advanced NGS laboratory. Results are delivered within 3–4 weeks via a secure DHA-compliant digital report, accompanied by a telephonic consultation with a Consultant Medical Geneticist to explain the findings.
3. Is this genetic test covered by insurance in the UAE?
Most UAE health insurers cover NGS-based genetic testing for clinically suspected mandibuloacral dysplasia when pre-authorised with a referral. Our team handles direct billing verification via WhatsApp at +971545488731. We assist in obtaining the necessary referral and prior approval from your insurance provider in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
4. What should I expect after receiving the results?
Your DHA-compliant digital report will include detailed variant interpretation, pathogenicity classification per ACMG guidelines, and clinical recommendations. A telephonic post-test counselling session with Lina Osama Zaki Quteineh, Consultant Medical Genetics, is scheduled to discuss implications for you and at-risk family members. Cascade screening for first-degree relatives may be recommended based on the result.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework
All patient genetic data is processed 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. Genomic data is encrypted, access-controlled, and never shared with third parties without explicit written consent.
Clinical Safety & Consent
Sample collection and testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Informed consent is obtained before any genetic analysis, and patients retain the right to withdraw consent at any stage prior to report generation.
Clinical & Logistical Metadata
| Test Name | ZMPSTE24 Gene Genetic Test for Mandibuloacral Dysplasia with Type B Lipodystrophy (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) or FTA Card Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Whole Gene Coding Region and Splice Sites |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 94086-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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