Test Price
2,800 AED✅ Home Collection Available
TK2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test (NGS) in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Precision in Diagnosing Mitochondrial DNA Depletion: This ISO-certified genetic test employs Next-Generation Sequencing to detect pathogenic variants in the TK2 gene with 99.9% diagnostic sensitivity. Our VIP mobile phlebotomy and temperature-controlled cold-chain home collection service operates daily from 8 AM to 11 PM. Post-test clinical guidance is provided via teleconsultation with our DHA-licensed genetics team. Insurance preauthorization assistance is available via WhatsApp at +971 54 548 8731. Turnaround time is 3–4 weeks from sample receipt.
Test Overview & Methodology
The TK2 gene test utilizes Next-Generation Sequencing to identify pathogenic mutations responsible for mitochondrial DNA depletion syndrome—a progressive neurological disorder often manifesting in infancy or childhood. This single-gene analysis provides definitive molecular evidence for precise diagnosis, family planning, and targeted clinical management. Full coding exons and flanking intronic regions are sequenced to capture single nucleotide variants, small insertions and deletions, and copy number variants.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity, detects SNVs, indels, CNVs | ~80% sensitivity for large rearrangements; misses copy number changes |
| Methodology | Next-Generation Sequencing (full coding exons) | Sanger sequencing (targeted regions only) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Sample Types | Whole blood, extracted DNA, dried blood spot (FTA card) | Whole blood only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: “Precise molecular diagnosis of TK2-related mitochondrial DNA depletion syndrome requires careful correlation with clinical presentation and biochemical markers. A negative NGS result does not fully exclude mitochondrial disease—complementary testing such as mitochondrial genome sequencing or muscle biopsy may be indicated. Any therapeutic adjustments must be supervised by a qualified specialist. Our commitment is to deliver accurate genetic insights while safeguarding patient safety throughout the diagnostic journey.”
Advisory Notice: Medication & Clinical Supervision
Important Safety Advisory
Do not discontinue or alter any prescribed medication without explicit consultation with your treating physician. Genetic test results should never be used as the sole basis for medication changes. Always maintain close communication with your healthcare provider regarding symptom management and treatment planning.
Exclusion Criteria & Emergency Red Flags
Contraindications for Sample Collection
- This test is not suitable for minors without explicit parental consent, in full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and applicable UAE regulations.
- Individuals who have received a blood transfusion within the last 14 days should defer sample collection to avoid false results.
- Active systemic infection or severely unstable clinical condition contraindicate home phlebotomy; hospital-based collection is recommended.
- Seek immediate emergency care if you experience acute neurological deterioration, respiratory distress, or signs of severe metabolic acidosis (e.g., rapid breathing, lethargy) before or after testing.
Patient FAQ & Clinical Guidance
1. Why is NGS testing for the TK2 gene more accurate than older methods?
This NGS-based test detects all variant types including single nucleotide variants, indels, and copy number changes in the TK2 gene, ensuring 99.9% sensitivity compared to Sanger sequencing's approximate 80% sensitivity for large rearrangements. It provides a comprehensive molecular diagnosis in a single assay, reducing the need for sequential testing and enabling earlier clinical intervention.
2. How is the sample collected and what preparation is required?
A certified phlebotomist visits your home between 8 AM and 11 PM to collect a standard blood draw, dried blood spot, or receive your previously extracted DNA following validated cold-chain protocols. No fasting is required. However, you must provide a detailed clinical history and attend a pre-test genetic counselling session to document a three-generation pedigree prior to specimen submission.
3. What does a positive TK2 mutation result mean for my health?
A positive result confirms a genetic diagnosis of TK2-related mitochondrial DNA depletion syndrome, explaining symptoms such as muscle weakness and neurological decline. This critical information allows your neurologist or geneticist to tailor treatment, initiate early interventions, and guide family members about inheritance risks through dedicated genetic counselling.
4. Can this test be used for carrier screening or family planning?
Yes, this diagnostic test can also inform carrier status for at-risk family members when performed alongside appropriate pre- and post-test genetic counselling. Results should be interpreted in the context of a complete pedigree analysis and in accordance with UAE guidelines for reproductive genetic testing.
5. How long does it take to receive results and how are they delivered?
The standard turnaround time is 3–4 weeks from the date of sample receipt. Results are delivered electronically via a secure patient portal and reviewed during a follow-up teleconsultation with our genetics team. A hard copy report is also available upon request.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
DNA Labs UAE operates in full compliance with all applicable UAE federal laws governing genetic testing, data protection, and healthcare information security. All patient data is processed and stored in accordance 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. Clinical testing protocols and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our DHA-licensed facility (License No. 1143) maintains rigorous quality management systems aligned with ISO 9001:2015 standards. All genetic counselling sessions, sample collection procedures, and result disclosures are conducted by qualified professionals registered with the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | TK2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood, extracted DNA, dried blood spot (FTA card). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exons and flanking intronic regions |
| ICD-10-CM Code | E88.8 (Other specified metabolic disorders) |
| LOINC Code | 87809-3 (Targeted mutation analysis for inherited disorder) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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