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Test Price

3,000 AED

✅ Home Collection Available

Mitochondrial Genome Sequencing (mtDNA Full Sequence) in UAE | Comprehensive NGS Analysis

Executive Summary & Core Metrics

Harness the full diagnostic power of mitochondrial DNA analysis with 99.9% analytical sensitivity. Our ISO 9001:2015-certified laboratory performs high-depth whole-mtDNA sequencing using Illumina NovaSeq technology, enabling detection of pathogenic variants and heteroplasmy levels as low as 1%. This test is essential for evaluating mitochondrial disorders such as MELAS, MERRF, and Leigh syndrome, as well as mitochondrial dysfunction in oncologic contexts.

  • Price: 3,000 AED — inclusive of post-test telephonic clinical guidance with a DHA-licensed specialist.
  • Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, or in-laboratory blood draw at Dubai Healthcare City.
  • Turnaround Time: 5 weeks from sample receipt to verified clinical report.
  • Billing Support: Direct insurance billing verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

Mitochondrial genome sequencing maps the entire ~16,569 base-pair mtDNA molecule using next-generation sequencing with targeted mtDNA enrichment. The bioinformatics pipeline aligns reads against the revised Cambridge Reference Sequence (rCRS) and identifies single-nucleotide variants, insertions, deletions, and heteroplasmic shifts down to 1% allele frequency. This comprehensive approach surpasses the limited scope of targeted hotspot panels or Sanger sequencing, which often miss low-level heteroplasmy and variants outside conserved regions.

Comparison Feature NGS mtDNA Full Sequence (This Test) Targeted Panel / PCR-Based Method
Methodology NGS with mtDNA enrichment (Illumina NovaSeq) + proprietary bioinformatics Sanger sequencing or multiplex PCR for pre-selected known mutations
Detection Scope Entire mitochondrial genome; heteroplasmy detection as low as 1% Only pre-defined hotspots; heteroplasmy sensitivity typically >15–20%
Turnaround Time 5 weeks 2–3 weeks (varies by laboratory)
Price (AED) 3,000 ~1,500–2,000

Physician Insight & Safety Protocols

“Mitochondrial genome sequencing provides an unparalleled window into the genetic basis of energy metabolism disorders. As a consultant medical geneticist, I stress that while this test achieves 99.9% sensitivity for heteroplasmic variants, results must always be interpreted alongside clinical presentation, biochemical markers, and family pedigree. Pre-test genetic counselling is strongly recommended to help patients understand the potential implications for themselves and their maternal relatives.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Safety & Advisory Protocol

Important Clinical Advisory

Genetic testing is an adjunct to, not a substitute for, immediate medical care. Patients experiencing acute metabolic crises such as severe lactic acidosis, unexplained seizures, or stroke-like episodes require urgent emergency evaluation and management. Do not delay treatment while awaiting sequencing results.

Exclusion Criteria

  • This test is not intended for forensic identification, paternity determination, ancestry inference, or recreational biohacking purposes.
  • Only whole blood collected by a certified phlebotomist or high-quality extracted DNA (A260/A280 ratio 1.8–2.0) is accepted. Self-collection or buccal swab specimens are invalid for this assay.
  • For minor patients, written informed consent from a legal guardian is mandatory in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Patients with a known diagnosis of mitochondrial disease who require targeted variant confirmation should consult their geneticist to determine whether full genome sequencing or a focused single-variant test is more appropriate.

Patient FAQ & Clinical Guidance

1. What conditions can mitochondrial genome sequencing detect?

Complete mitochondrial DNA sequencing identifies disease-causing variants associated with MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes), MERRF (Myoclonic Epilepsy with Ragged Red Fibers), Leigh syndrome, Leber’s Hereditary Optic Neuropathy (LHON), and mitochondrial dysfunction observed in certain oncologic contexts. The test also reveals heteroplasmic shifts that inform prognosis in mitochondrial disorders and cancer susceptibility assessment.

2. How accurate is the mitochondrial genome sequencing test?

Our validated NGS pipeline achieves 99.9% analytical sensitivity for single-nucleotide variants and indels across the entire mitochondrial genome. Heteroplasmy detection sensitivity reaches 1% allele frequency, ensuring reliable identification of low-level pathogenic variants that would be missed by Sanger sequencing or targeted panels. Each sequencing run includes positive and negative controls calibrated against reference mitochondrial genomes.

3. Do I need a doctor’s referral for this test?

Yes, a physician’s referral is mandatory for diagnostic mitochondrial genome sequencing under DHA regulatory requirements. Direct-to-consumer genetic testing for mitochondrial disorders is not permitted in the UAE. Research samples must have institutional ethics board approval prior to submission. Our team can assist with referral coordination if needed.

4. How should I prepare for sample collection?

No special preparation such as fasting is required for mitochondrial DNA sequencing from whole blood. However, inform your phlebotomist if you are taking any anticoagulant medications. For home collection, our mobile phlebotomist will arrive with temperature-controlled transport packaging and confirm your identity against the laboratory requisition form. Please have your Emirates ID and referral letter ready.

UAE Regulatory & Data Privacy Adherence

All testing is conducted in an ISO 9001:2015-certified facility (Cert: INT/EGQ/2509DA/3139). Patient genetic data is processed and stored in full 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. Clinical safety and informed consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information remains confidential and is used solely for diagnostic interpretation and clinical reporting. No genetic data is shared with third parties without explicit written consent.

Clinical & Logistical Metadata

Test Name Mitochondrial Genome Sequencing (mtDNA Full Sequence)
Price (AED) 3,000
Turnaround Time 5 weeks
Sample Type / Matrix Whole blood (peripheral) or extracted DNA (A260/A280 1.8–2.0); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM
Methodology Used Next-Generation Sequencing (NGS) with mtDNA enrichment on Illumina NovaSeq; bioinformatics alignment to rCRS with heteroplasmy detection down to 1% allele frequency
ICD-10-CM Code E88.49 (Other mitochondrial metabolism disorders)
LOINC Code 92630-0 (Mitochondrial DNA full genome sequencing in Blood or Tissue by NGS)
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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