Test Price
2,800 AED✅ Home Collection Available
MPZ Gene CMT2J Next‑Generation Sequencing (NGS) Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO‑Certified NGS
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM)
Telephonic Post‑Test Clinical Guidance & Result Interpretation by Consultant Medical Genetics
Direct Insurance Billing – WhatsApp +971 54 548 8731
Turnaround Time: 3–4 Weeks
Comprehensive MPZ coding region analysis with full gene coverage
Pre‑test genetic counselling session mandatory for informed consent
Results include variant classification per ACMG/AMP guidelines
Test Overview & Methodology
The MPZ gene test for Charcot‑Marie‑Tooth disease type 2J (CMT2J) identifies pathogenic variants in the myelin protein zero gene, which is essential for peripheral nerve myelin integrity. This high‑coverage next‑generation sequencing assay interrogates all coding exons and flanking intronic regions of MPZ with a minimum read depth of 50×, enabling detection of point mutations, small insertions and deletions, and copy‑number variants.
Clinical indication includes adults and children presenting with distal symmetric weakness, sensory loss, areflexia, and foot deformities suggestive of an axonal hereditary neuropathy, particularly when family history or electrophysiological studies point to CMT2. A definitive molecular diagnosis informs prognosis, enables cascade screening of at‑risk relatives, and guides reproductive counselling.
| Feature | DNA Labs UAE MPZ NGS Test (2,800 AED) | Closest Alternative (Limited Panel / Sanger) |
|---|---|---|
| Methodology | Full MPZ coding region by NGS (100% coverage, read depth >50×) | Targeted mutation analysis or Sanger sequencing of selected exons |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (may require reflex testing) |
| Diagnostic Yield | Identifies point mutations, small indels, and copy‑number variants; clinically validated | Limited to common mutations; may miss rare or novel variants |
| Clinical Utility | Precise molecular diagnosis, family cascade screening, reproductive options | Often requires subsequent full gene sequencing for definitive result |
Physician Insight & Safety Protocols
“Molecular confirmation of CMT2J through MPZ gene sequencing provides essential prognostic and family‑planning information. However, results must always be correlated with a comprehensive neurological examination and nerve conduction studies. Variants of uncertain significance are possible; therefore, pre‑test genetic counselling with a three‑generation pedigree analysis is mandatory for accurate interpretation. Patients should continue all prescribed medications unless explicitly advised otherwise by their treating neurologist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Precautions for Genetic Testing
- Do not discontinue any prescribed medication before consulting your doctor.
- A mandatory pre‑test genetic counselling session must be completed before sample collection.
- Informed consent for genetic analysis must be provided by the patient or a legal guardian for minors.
- Results may include variants of uncertain significance that require family segregation studies.
Exclusion Criteria & Emergency Red Flags
- Known allergy to phlebotomy materials or inability to provide a venous blood sample.
- Lack of capacity to provide informed consent for genetic testing (requires legal guardian approval per UAE regulations).
- Acute intercurrent illness that may confound the clinical evaluation of neuropathy.
Seek Immediate Medical Attention If You Experience:
- Sudden neurological deterioration such as acute weakness or loss of sensation.
- Severe pain or swelling at the blood draw site unresponsive to conservative measures.
- Any allergic reaction after sample collection including facial swelling or difficulty breathing.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the MPZ gene CMT2J NGS test?
This test sequences the MPZ gene to diagnose Charcot‑Marie‑Tooth disease type 2J, confirm a genetic predisposition, or guide family planning. It is indicated when there is clinical suspicion of an axonal hereditary neuropathy with a positive family history or sporadic presentation consistent with CMT2J. The assay detects both known and novel pathogenic variants.
2. How should I prepare for the MPZ gene test?
Provide a detailed clinical history including family neurological conditions and attend a mandatory genetic counselling session to obtain informed consent. A nucleic acid sample (whole blood, extracted DNA, or one drop of blood on an FTA card) will be collected. No fasting is required, but please inform your phlebotomist of all current medications.
3. What does a positive or negative result mean for my health?
A positive result indicates a pathogenic MPZ variant consistent with CMT2J and confirms the molecular diagnosis. A negative result reduces likelihood of CMT2J but may require further investigation for other hereditary neuropathies. A variant of uncertain significance triggers additional family studies. Genetic counselling will interpret the finding in the context of your clinical picture and pedigree.
4. Can this test be performed during pregnancy or for prenatal diagnosis?
Yes, with appropriate counselling. Prenatal testing for CMT2J requires prior identification of the familial pathogenic variant and is performed on chorionic villus sampling or amniocentesis specimens under the guidance of a maternal‑fetal medicine specialist and a medical geneticist.
UAE Regulatory & Data Privacy Adherence
Strictly compliant 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 genetic data is encrypted, access‑controlled, and stored on sovereign UAE infrastructure. Clinical safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Pre‑test genetic counselling is mandated under DHA regulatory standards.
Clinical & Logistical Metadata
| Test Name | MPZ Gene CMT2J Next‑Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full coding region coverage, read depth >50×, variant confirmation by Sanger sequencing when indicated |
| ICD‑10‑CM Code | G60.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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