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Diagnostic options · UAE

Mitochondrial Disorders tests in Dubai & UAE

Compare available Mitochondrial Disorders tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

Tests in this category

62

Listed price range

1,100.00–4,500.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Mitochondrial Disorders test prices

Showing 1–15 of 62 matching tests.

Mitochondrial Disorders diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-5083
ATP5F1A Gene Sequencing for Mitochondrial Complex V Deficiency, Nuclear Type 4 (NGS) Test

This test evaluates the ATP5F1A gene for mutations associated with mitochondrial complex V deficiency, nuclear type 4.

Peripheral whole blood (EDTA) or buccal swab 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["ATP5F1A gene coding region", "Pathogenic variants"]
Parameters
[]
Preparation
["Fasting is not required", "Mandatory genetic counselling session prior to sample collection"]
Indications
["Suspected mitochondrial complex V deficiency, nuclear type 4", "Progressive neurological symptoms of unknown origin"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94891-5 ICD-10: E88.49
Clinical summary
This test evaluates the ATP5F1A gene for mutations associated with mitochondrial complex V deficiency, nuclear type 4.
TEST-5182
ATP5F1E Gene Test

This diagnostic test evaluates the ATP5F1E gene for pathogenic variants associated with Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3.

Whole Blood (EDTA Tube), Extracted DNA (≥1 µg), or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the ATP5F1E gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (Indels)", "Copy number variations (CNVs)"]
Parameters
[{"name": "Analytical Sensitivity", "reference_range": "≥99.9% for SNVs and Indels"}]
Preparation
["A mandatory Genetic Counselling session is required prior to sample processing.", "Document a pedigree chart of family members affected with ATP5F1E-related Mitochondrial Complex V Deficiency, Nuclear Type 3."]
Indications
["Suspected Mitochondrial Complex V Deficiency, Nuclear Type 3", "Neonatal or early-childhood onset hypotonia", "Lactic acidosis", "Hypertrophic cardiomyopathy", "Developmental regression"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 93495-7 ICD-10: E88.49, G31.82, Z13.71
Clinical summary
This diagnostic test evaluates the ATP5F1E gene for pathogenic variants associated with Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3.
TEST-4622
COX15 Gene Leigh Syndrome Genetic Test

This diagnostic test evaluates the entire coding region of the COX15 gene for pathogenic variants associated with Leigh syndrome.

Whole Blood (Peripheral) or FTA Card 3 to 4 Weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the COX15 gene", "Exons and splice sites of the COX15 gene"]
Parameters
[]
Preparation
["Genetic counseling session arranged prior to collection", "Informed consent required"]
Indications
["Clinical and imaging findings suggestive of Leigh syndrome", "Need for precise genetic counseling", "Personalized management planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21677-0 ICD-10: G31.82
Clinical summary
This diagnostic test evaluates the entire coding region of the COX15 gene for pathogenic variants associated with Leigh syndrome.
TEST-6136
FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 Genetic Test

This genetic test evaluates the FARS2 gene for variants associated with Combined Oxidative Phosphorylation Deficiency Type 14 (COXPD14), a rare mitochondrial disorder.

Whole blood (EDTA, 3–5 mL), Extracted DNA (≥1 µg, 260/280 1.8–2.0), or one-drop blood on FTA card 3–4 weeks 2,800.00 AED
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What it measures
["FARS2 gene sequence", "Single-nucleotide variants", "Copy-number variants"]
Parameters
[]
Preparation
["None specified"]
Indications
["Suspected Combined Oxidative Phosphorylation Deficiency Type 14 (COXPD14)", "Evaluation of mitochondrial disorders", "Neurological or metabolic symptoms suggestive of FARS2 dysfunction"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81247-9 ICD-10: E88.8
Clinical summary
This genetic test evaluates the FARS2 gene for variants associated with Combined Oxidative Phosphorylation Deficiency Type 14 (COXPD14), a rare mitochondrial disorder.
TEST-5172
FASTKD2 Gene Test

This test detects pathogenic variants in the FASTKD2 gene, which are associated with Mitochondrial Complex IV Deficiency.

Whole Blood, Extracted DNA, or One-drop Blood on FTA Card 3 – 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the FASTKD2 gene", "SNVs, indels, deep intronic splice sites, large deletions/duplications"]
Parameters
[]
Preparation
["No specific fasting required", "Inform lab of any anticoagulation medication"]
Indications
["Unexplained neurological regression", "Failure to thrive", "Hypotonia", "Suspected Leigh-like syndrome", "Metabolic screening results suggesting mitochondrial disease"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94222-3 ICD-10: E88.49
Clinical summary
This test detects pathogenic variants in the FASTKD2 gene, which are associated with Mitochondrial Complex IV Deficiency.
TEST-5110
FOXRED1 Gene Genetic Test

This genetic test analyzes the FOXRED1 gene to detect variants associated with mitochondrial complex I deficiency and Leigh syndrome.

Peripheral Blood (Whole Blood) in EDTA 3–4 weeks 2,800.00 AED
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What it measures
["FOXRED1 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"]
Parameters
[]
Preparation
["Inform phlebotomist of all current medications", "Do not discontinue prescribed medication without consulting a doctor"]
Indications
["Suspected mitochondrial complex I deficiency", "Diagnosis of Leigh syndrome", "Family history of related disorders"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 98569-1 ICD-10: G31.82, E88.40, Z13.71
Clinical summary
This genetic test analyzes the FOXRED1 gene to detect variants associated with mitochondrial complex I deficiency and Leigh syndrome.
TEST-6156
GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 Test

This test evaluates the entire coding region of the GTPBP3 gene for pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 23.

Whole blood or buccal swab 3–4 Weeks (expedited available) 2,800.00 AED
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What it measures
["Pathogenic variants in the GTPBP3 gene", "Mitochondrial complex V deficiency"]
Parameters
[]
Preparation
["No specific fasting required", "No medication or diet restrictions"]
Indications
["Diagnosis of Combined Oxidative Phosphorylation Deficiency Type 23", "Carrier screening", "Informed family planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 103318-6 ICD-10: E88.49, Z14.8, Z13.79
Clinical summary
This test evaluates the entire coding region of the GTPBP3 gene for pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 23.
TEST-5138
IBA57 Gene (Multiple Mitochondrial Dysfunctions Syndrome Type 3) Genetic Test

This genetic test analyzes the IBA57 gene to detect mutations causing Multiple Mitochondrial Dysfunctions Syndrome Type 3.

Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the IBA57 gene", "Coding regions and splice sites"]
Parameters
[]
Preparation
["No specific fasting required", "Avoid recent blood transfusions"]
Indications
["Suspected Multiple Mitochondrial Dysfunctions Syndrome Type 3 (MMDS3)", "Inconclusive metabolic or genetic workup"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 101847-9 ICD-10: G71.3, E88.49, Z13.79
Clinical summary
This genetic test analyzes the IBA57 gene to detect mutations causing Multiple Mitochondrial Dysfunctions Syndrome Type 3.
TEST-5237
ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 (MMDS4) Genetic Test

This genetic test identifies pathogenic variants, including point mutations and copy number variations, within the ISCA2 gene associated with Multiple Mitochondrial Dysfunctions Sy...

Whole Blood / Extracted DNA / FTA Card 3 to 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["ISCA2 gene sequence", "ISCA2 gene copy number variations (deletions/duplications)"]
Parameters
[]
Preparation
["No fasting required", "No special preparation needed"]
Indications
["Suspected Multiple Mitochondrial Dysfunctions Syndrome Type 4", "Progressive neurodegeneration with lactic acidosis", "Family history suggestive of MMDS4"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 101804-6 ICD-10: G31.89
Clinical summary
This genetic test identifies pathogenic variants, including point mutations and copy number variations, within the ISCA2 gene associated with Multiple Mitochondrial Dysfunctions Syndrome Type 4.
TEST-2358
Leber’s Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test

This test detects specific pathogenic point mutations in mitochondrial DNA associated with Leber’s Hereditary Optic Neuropathy (LHON). It confirms the molecular diagnosis of this m...

Whole blood (4 mL EDTA, lavender-top tube) 4 weeks 3,500.00 AED
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What it measures
["mtDNA point mutations (m.3460G>A, m.11778G>A, m.14484T>C)"]
Parameters
[]
Preparation
["No fasting required", "Complete Genomics Clinical Information Requisition Form (Form 20)"]
Indications
["Suspected Leber’s Hereditary Optic Neuropathy (LHON)", "Family history of LHON", "Evaluation of hereditary optic atrophy"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94087-3 ICD-10: H47.22
Clinical summary
This test detects specific pathogenic point mutations in mitochondrial DNA associated with Leber’s Hereditary Optic Neuropathy (LHON). It confirms the molecular diagnosis of this maternally inherited condition causing vision loss.
TEST-2385
Leigh Syndrome Mitochondrial Mutation Detection Test

This test identifies pathogenic variants within the entire mitochondrial DNA (mtDNA) associated with Leigh syndrome.

Whole blood Report by Friday if sample received by Monday 9 AM 1,200.00 AED
View
View test specifications and preparation
What it measures
["Mitochondrial DNA variants", "Pathogenic mutations in mtDNA"]
Parameters
[]
Preparation
["No specific fasting required", "Avoid strenuous activity before sample collection"]
Indications
["Suspected Leigh syndrome", "Family history of mitochondrial disorders", "Need for genetic counseling", "Carrier screening in at-risk family members"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 93360-1 ICD-10: G31.82, E88.4, Z14.8
Clinical summary
This test identifies pathogenic variants within the entire mitochondrial DNA (mtDNA) associated with Leigh syndrome.
TEST-2565
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes) Mutation Detection Test

This test detects the specific m.3243A>G mutation in the MTTL1 gene, the most common cause of MELAS syndrome.

Whole Blood (EDTA) 5 working days (Sunday–Thursday) 1,100.00 AED
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View test specifications and preparation
What it measures
["m.3243A>G mutation", "MTTL1 gene variant"]
Parameters
[{"name": "m.3243A>G Mutation Status", "reference_range": "Negative / Positive"}]
Preparation
["No specific fasting required", "Continue all prescribed medications"]
Indications
["Suspected MELAS syndrome", "Evaluation of mitochondrial encephalomyopathy", "Family history of mitochondrial disorders"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 58221-6 ICD-10: E88.41
Clinical summary
This test detects the specific m.3243A>G mutation in the MTTL1 gene, the most common cause of MELAS syndrome.
TEST-5209
MFF Gene Mitochondrial Encephalomyopathy Genetic Test

This genetic test evaluates the MFF gene for pathogenic variants associated with mitochondrial encephalomyopathy, a progressive neurological disorder.

Whole Blood, Extracted DNA, or FTA Card (One Drop Blood) 3 to 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the MFF gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number variations"]
Parameters
[]
Preparation
[]
Indications
["Patients with progressive neurological decline", "Patients with muscle weakness", "Patients with developmental regression without a clear etiology"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 62896-9 ICD-10: G71.3
Clinical summary
This genetic test evaluates the MFF gene for pathogenic variants associated with mitochondrial encephalomyopathy, a progressive neurological disorder.
TEST-283
Mitochondrial Genome Sequencing and Analysis Test

This test evaluates the entire mitochondrial genome for mutations and variations.

Whole Blood or Extracted DNA 8 Weeks 3,500.00 AED
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View test specifications and preparation
What it measures
["Point mutations in mtDNA", "Large deletions in mtDNA", "Heteroplasmy levels"]
Parameters
[]
Preparation
[]
Indications
["Diagnosis of inherited mitochondrial disorders", "Investigation of neurodegenerative diseases", "Cancer predisposition assessment"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 64518-6 ICD-10: E88.49
Clinical summary
This test evaluates the entire mitochondrial genome for mutations and variations.
TEST-2554
Mitochondrial Mutation Detection Comprehensive Panel Test

This test evaluates the entire mitochondrial DNA and over 300 nuclear genes associated with mitochondrial disease.

Peripheral whole blood (4 mL lavender-top EDTA tube) 5 working days 4,500.00 AED
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View test specifications and preparation
What it measures
["Mitochondrial DNA mutations", "Nuclear gene mutations associated with mitochondrial disease"]
Parameters
[]
Preparation
["No fasting required.", "Ensure a completed Genomics Clinical Information Requisition Form (Form 20) is provided."]
Indications
["Suspected mitochondrial cytopathy", "Progressive neurological symptoms", "Muscle weakness", "Multi-organ involvement", "Family history suggesting maternal inheritance"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 101376-0 ICD-10: E88.49
Clinical summary
This test evaluates the entire mitochondrial DNA and over 300 nuclear genes associated with mitochondrial disease.

Category overview

Mitochondrial Disorders: overview

Complex, overlapping symptoms that dramatically worsen with illness or metabolic stress often trace back to hidden hereditary defects in cellular energy production, demanding rigorous molecular oversight. Integrated into our elite Genetics and Metabolic services, comprehensive testing for Mitochondrial Disorders maps the intricate genetic pathways governing your mitochondria to pinpoint exactly where energy production fails. Utilizing advanced genomic profiling, this expansive screening uncovers the biological root of systemic fatigue and organ dysfunction, safely guiding your healthcare provider in tailoring highly personalized supportive therapies, customized nutritional interventions, and proactive preventative care. Trusted for clinical excellence among top diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, uncompromising diagnostic precision, and remarkably fast reporting. Take an empowered step toward targeted wellness—book your mitochondrial disorders testing in UAE, arrange a secure clinical sample collection, or connect with our specialized medical experts today.

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Use the test details as a conversation starter

The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.