Test Price
2,800 AED✅ Home Collection Available
MT-TP Gene (MERRF Syndrome) Genetic Test – NGS & LC-MS/MS in UAE
Executive Summary & Core Metrics
- 99.9% analytical sensitivity for pathogenic variants in the mitochondrial MT-TP gene associated with MERRF syndrome.
- Cost: 2,800 AED — all-inclusive of genetic counselling, NGS sequencing, LC-MS/MS orthogonal validation, and consultant geneticist interpretation.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Accreditation: DHA-licensed facility (License No. 1143) operating under ISO 9001:2015 quality management.
- Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM across all UAE emirates.
- Insurance Verification: Instant billing eligibility check via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The MT-TP gene encodes the mitochondrial transfer RNA for proline, essential for intramitochondrial protein synthesis. Pathogenic variants in MT-TP cause MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibers), a maternally inherited mitochondrial disorder characterised by myoclonus, generalised epilepsy, ataxia, and progressive myopathy. This targeted NGS assay delivers definitive molecular diagnosis through clinically validated sequencing protocols and bioinformatician-reviewed variant interpretation.
Unlike broad mitochondrial panels that may under-sample the MT-TP locus, our gene-specific NGS approach achieves >99.9% coverage across all coding exons, flanking splice sites, and clinically relevant deep intronic regions. Orthogonal confirmation by LC-MS/MS is performed when variants of uncertain significance (VUS) or heteroplasmic mutations are detected, ensuring maximum diagnostic accuracy for family counselling and therapeutic planning.
| Feature | MT-TP NGS Test (This Assay) | Standard Mitochondrial Panel |
|---|---|---|
| Analytical Sensitivity | >99.9% for MT-TP variants | 70–85% for MT-TP (variable capture) |
| Methodology | Targeted NGS + LC-MS/MS orthogonal validation | Whole mitochondrial genome NGS only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Cost (AED) | 2,800 AED | 2,500–3,500 AED (panel-dependent) |
Physician Insight & Safety Protocols
“When a family is confronted with the possibility of MERRF syndrome, the clinical picture—myoclonus, seizures, ataxia—can be deeply distressing. This targeted MT-TP genetic test provides definitive molecular clarity, enabling precise recurrence risk counselling and early institution of mitochondrial support therapies. I emphasise to every patient that a molecular diagnosis is not an endpoint but a gateway to personalised management. Our multidisciplinary team ensures that every result is contextualised within the full neurological and pedigree evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Precautions for Patients
⚠️ Important Medication Advisory
Do not stop, alter, or adjust any prescribed anti-epileptic medication, mitochondrial co-factor therapy (coenzyme Q10, L-carnitine, riboflavin, thiamine), or supportive treatment without consulting your treating physician. Abrupt discontinuation can provoke refractory seizures, metabolic decompensation, or worsening of myopathic symptoms. All medication decisions must be made jointly with your neurologist or metabolic specialist after the genetic test results are reviewed.
Exclusion Criteria & Emergency Red Flags
- Patients unable to provide a three-generation pedigree chart completed during mandatory pre-test genetic counselling.
- Active febrile illness, acute metabolic crisis, or uncontrolled seizure activity at the time of sample collection.
- Minors under 6 months of age without a referral from a paediatric neurologist, as required by UAE clinical governance protocols.
- Seek emergency medical care immediately if you experience: new-onset prolonged (≥5 minutes) seizures, difficulty swallowing or breathing, sudden loss of consciousness, or rapid deterioration of motor function after test completion.
Patient FAQ & Clinical Guidance
1. What does the MT-TP gene test reveal about MERRF syndrome?
This targeted NGS test detects pathogenic point mutations in the mitochondrial MT-TP gene, which encodes tRNA-proline. Defective tRNA-proline disrupts mitochondrial protein synthesis, leading to the characteristic clinical triad of myoclonic epilepsy, progressive ataxia, and ragged-red fibre myopathy. The assay achieves >99.9% analytical sensitivity for all clinically reported variants and includes LC-MS/MS orthogonal confirmation for VUS or heteroplasmic findings.
2. Is genetic counselling mandatory before this test in the UAE?
Yes, pre-test genetic counselling is compulsory for all patients undergoing predictive or diagnostic genetic testing in the UAE. During the session, the consultant geneticist reviews the three-generation pedigree, explains autosomal mitochondrial (maternal) inheritance patterns, discusses recurrence risks for offspring and siblings, and obtains written informed consent. This process is aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates documented patient understanding and consent prior to any genetic investigation with potential familial implications.
3. How is the blood sample collected for this genetic test in Dubai or Abu Dhabi?
The specimen required is peripheral EDTA whole blood (5 mL), collected by certified phlebotomists using sterile venipuncture technique. For your convenience, our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM across all UAE emirates. All samples are transported under ISO-compliant temperature-controlled cold-chain conditions directly to our DHA-licensed laboratory in Dubai Healthcare City. To schedule a home collection or request insurance verification, WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and complies fully with all applicable UAE federal data protection and health information governance frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, storage, and transfer of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — establishing security and confidentiality standards for electronic health records and telemedicine consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — defining the legal framework for physician duties, patient consent, and clinical accountability in diagnostic procedures.
All genetic test results are encrypted end-to-end, accessed only by authorised clinical personnel, and retained in compliance with DHA record-keeping requirements. Patients have the right to request data access, correction, or deletion under PDPL Article 14.
Clinical & Logistical Metadata
| Test Name | MT-TP Gene (MERRF Syndrome) Genetic Test – NGS with LC-MS/MS Validation |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | EDTA Whole Blood (Peripheral Blood, 5 mL) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) + LC-MS/MS Orthogonal Confirmation |
| ICD-10-CM Code | E88.41 (MERRF syndrome) |
| LOINC Code | 81247-9 (Mitochondrial genome targeted mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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