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Diagnostic options Β· 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 46–60 of 62 matching tests.

Mitochondrial Disorders diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-5026
NDUFAF3 Gene Mitochondrial Complex I Deficiency NGS Test

This test identifies pathogenic variants in the NDUFAF3 gene associated with mitochondrial Complex I deficiency.

Peripheral whole blood 3–4 weeks (expedited reporting available for critically ill neonates and urgent clinical indications) 2,800.00 AED
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What it measures
["Pathogenic variants in the NDUFAF3 gene", "Single nucleotide variants", "Small insertions and deletions", "Copy number alterations (CNV)"]
Parameters
[]
Preparation
["No special preparation or fasting is needed.", "Remain well-hydrated.", "Bring a complete list of current medications, supplements, and any prior genetic test reports."]
Indications
["Individuals with unexplained neurological symptoms", "Family history of mitochondrial disease"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94041-6 ICD-10: E88.49
Clinical summary
This test identifies pathogenic variants in the NDUFAF3 gene associated with mitochondrial Complex I deficiency.
TEST-5133
NDUFAF4 Gene Mitochondrial Complex I Deficiency Genetic Test

This test identifies pathogenic variants in the NDUFAF4 gene associated with Mitochondrial Complex I Deficiency.

Peripheral Blood (3-5 mL EDTA) or Saliva (Oragene OG-500 kit) 3 to 4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["NDUFAF4 gene sequence", "Pathogenic variants", "Copy Number Variations (CNV)"]
Parameters
[]
Preparation
["No specific fasting required", "Inform lab of any medications"]
Indications
["Suspected Mitochondrial Complex I Deficiency", "Childhood onset neurometabolic disorder", "Family history of mitochondrial disease"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: E88.49
Clinical summary
This test identifies pathogenic variants in the NDUFAF4 gene associated with Mitochondrial Complex I Deficiency.
TEST-5144
NDUFS6 Gene (Mitochondrial Complex I Deficiency) Genetic Test

This genetic test identifies pathogenic variants in the NDUFS6 gene, which are responsible for mitochondrial complex I deficiency, a severe neurometabolic disorder.

Whole Blood (Peripheral Blood) – EDTA tube 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["NDUFS6 gene variants", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variants (CNVs)"]
Parameters
[]
Preparation
["Formal genetics consultation and written informed consent required prior to testing", "Patient must be clinically stable"]
Indications
["Symptomatic individuals", "At-risk family members", "Prenatal diagnosis"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94228-7 ICD-10: E88.49
Clinical summary
This genetic test identifies pathogenic variants in the NDUFS6 gene, which are responsible for mitochondrial complex I deficiency, a severe neurometabolic disorder.
TEST-5150
NDUFV2 Gene Mitochondrial Complex I Deficiency Genetic Test

This genetic test identifies mutations in the NDUFV2 gene associated with mitochondrial complex I deficiency.

Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["NDUFV2 gene mutations", "Mitochondrial Complex I function"]
Parameters
[]
Preparation
["No specific fasting required", "Do not discontinue prescribed metabolic cocktails, vitamins, or seizure medications without consultation"]
Indications
["Suspected mitochondrial complex I deficiency", "Diagnosis confirmation", "Family planning", "Guiding treatment"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82173-6 ICD-10: E88.49
Clinical summary
This genetic test identifies mutations in the NDUFV2 gene associated with mitochondrial complex I deficiency.
TEST-5134
NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1) Genetic Test

This test identifies pathogenic variants in the NFU1 gene associated with Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1).

Whole Blood (3-5 ml) or Dried Blood Spot (FTA Card) 3-4 Weeks (expedited upon request) 2,800.00 AED
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What it measures
["Pathogenic variants in the NFU1 gene", "Exon-intron boundaries of the NFU1 gene"]
Parameters
[]
Preparation
["No fasting required", "Provide detailed clinical history", "Provide pedigree chart from prior genetic counselling session"]
Indications
["Infants presenting with hypotonia, seizures, rapid neurodegeneration", "Children with Leigh-like bilateral basal ganglia lesions", "Patients with persistent metabolic acidosis or elevated lactate"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82319-8 ICD-10: E88.89
Clinical summary
This test identifies pathogenic variants in the NFU1 gene associated with Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1).
TEST-5099
POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A Genetic Test

This genetic test evaluates the POLG gene for pathogenic variants associated with mitochondrial DNA depletion syndrome type 4A (Alpers-Huttenlocher syndrome).

Peripheral Whole Blood, DNA FTA Card, or Extracted DNA 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the POLG gene", "Deletions/Duplications (CNV) in the POLG gene"]
Parameters
[]
Preparation
["No specific fasting required", "Inform lab of any medications, especially valproate"]
Indications
["Suspected diagnosis of mitochondrial DNA depletion syndrome type 4A (Alpers-Huttenlocher syndrome)", "Family history of mitochondrial disorders", "Need to guide medication choices (e.g., avoiding valproate)"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 101308-6 ICD-10: E88.81
Clinical summary
This genetic test evaluates the POLG gene for pathogenic variants associated with mitochondrial DNA depletion syndrome type 4A (Alpers-Huttenlocher syndrome).
TEST-5201
POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B Genetic Test

This diagnostic test evaluates the entire coding region of the POLG gene for variants associated with Mitochondrial DNA Depletion Syndrome Type 4B (MTDPS4B).

Peripheral Whole Blood (EDTA) or FTA Card 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["POLG gene variants", "Exons and splice sites of POLG gene"]
Parameters
[]
Preparation
["No fasting required", "No medication adjustments needed", "Provide clinical history and pedigree chart"]
Indications
["Suspected mitochondrial DNA depletion syndrome type 4B", "Patients with neurological decline"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94862-4 ICD-10: E88.49, Z13.71
Clinical summary
This diagnostic test evaluates the entire coding region of the POLG gene for variants associated with Mitochondrial DNA Depletion Syndrome Type 4B (MTDPS4B).
TEST-5619
RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Genetic Test

This genetic test identifies mutations in the RNASEH1 gene associated with autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (PEOA2).

Whole Blood 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["RNASEH1 gene sequence", "Exon-intron boundaries", "Copy Number Variations (CNV)"]
Parameters
[]
Preparation
[]
Indications
["Diagnosis of PEOA2", "Family history of PEOA2", "Unexplained progressive external ophthalmoplegia"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 93569-1 ICD-10: G31.81
Clinical summary
This genetic test identifies mutations in the RNASEH1 gene associated with autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (PEOA2).
TEST-5542
RRM2B Gene (PEOA5) Genetic Test

This genetic test identifies dominant mutations in the RRM2B gene associated with progressive external ophthalmoplegia with mitochondrial DNA deletions type 5 (PEOA5).

Whole blood (peripheral), dried blood spot on FTA card, or extracted DNA 3 – 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["RRM2B gene pathogenic variants", "Mitochondrial DNA deletions (indirectly via RRM2B mutation)"]
Parameters
[]
Preparation
["No specific fasting required", "No medication or diet restrictions"]
Indications
["Suspected diagnosis of Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Type 5 (PEOA5)", "Family history of PEOA5", "Need for definitive molecular diagnosis", "Family risk assessment"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 84496-8 ICD-10: H49.8
Clinical summary
This genetic test identifies dominant mutations in the RRM2B gene associated with progressive external ophthalmoplegia with mitochondrial DNA deletions type 5 (PEOA5).
TEST-5053
SDHD Gene Mitochondrial Complex II Deficiency NGS Genetic Analysis Test

This test evaluates the SDHD gene for pathogenic variants associated with mitochondrial complex II deficiency and hereditary paraganglioma-pheochromocytoma syndrome.

Whole blood (EDTA), extracted DNA (β‰₯1 Β΅g), or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["SDHD gene sequence", "Copy Number Variations (CNV) in SDHD gene"]
Parameters
[]
Preparation
["No specific fasting required", "Inform lab of any anticoagulation therapy"]
Indications
["Suspected mitochondrial complex II deficiency", "Suspected hereditary paraganglioma-pheochromocytoma syndrome", "Family history of related disorders"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21642-3 ICD-10: E88.39, D44.1
Clinical summary
This test evaluates the SDHD gene for pathogenic variants associated with mitochondrial complex II deficiency and hereditary paraganglioma-pheochromocytoma syndrome.
TEST-5188
SUCLA2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test

This genetic test analyzes the SUCLA2 gene for pathogenic variants associated with mitochondrial DNA depletion syndrome type 5 (MTDPS5).

Whole Blood (EDTA), Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the SUCLA2 gene", "Full gene coverage", "Deep intronic mutations", "Copy Number Variations (CNV)"]
Parameters
[]
Preparation
["No specific fasting required.", "Do not discontinue prescribed medications unless instructed by a physician."]
Indications
["Infants or children with hypotonia, developmental delay, and elevated methylmalonic acid.", "Suspected mitochondrial DNA depletion syndrome type 5 (MTDPS5)."]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21730-8 ICD-10: E88.49
Clinical summary
This genetic test analyzes the SUCLA2 gene for pathogenic variants associated with mitochondrial DNA depletion syndrome type 5 (MTDPS5).
TEST-5109
SUCLG1 Gene Genetic Test for Mitochondrial DNA Depletion Syndrome (Encephalomyopathic Type with Methylmalonic Aciduria)

This test identifies pathogenic variants in the SUCLG1 gene associated with a specific type of mitochondrial DNA depletion syndrome.

Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["SUCLG1 gene variants", "Pathogenic mutations"]
Parameters
[]
Preparation
["Mandatory Genetic Counseling session prior to sample collection", "Disclose all current medications, supplements, and recent illnesses", "Complete mandatory medication disclosure form"]
Indications
["Infants and children with symptoms suggestive of the disorder", "Asymptomatic siblings and extended family members seeking carrier status", "Adults with unexplained mitochondrial myopathy and compatible biochemical profile"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94233-3 ICD-10: E88.49
Clinical summary
This test identifies pathogenic variants in the SUCLG1 gene associated with a specific type of mitochondrial DNA depletion syndrome.
TEST-5077
TMEM70 Gene Analysis (Mitochondrial Complex V Deficiency, Nuclear Type 2) Test

This genetic test analyzes the TMEM70 gene to detect pathogenic variants associated with Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2.

Whole Blood (EDTA), Extracted DNA, or FTA Card (blood spot) 3 to 4 weeks from sample receipt 2,800.00 AED
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View test specifications and preparation
What it measures
["TMEM70 gene sequence", "Pathogenic variants in TMEM70"]
Parameters
[]
Preparation
["Inform phlebotomist of all current medications, supplements, and herbal preparations.", "No fasting required."]
Indications
["Suspected Mitochondrial Complex V Deficiency, Nuclear Type 2", "Infants with unexplained metabolic crises", "Neonates with hypotonia and lactic acidosis"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81337-8 ICD-10: E88.49
Clinical summary
This genetic test analyzes the TMEM70 gene to detect pathogenic variants associated with Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2.
TEST-5537
TWNK (C10orf2) Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test

This genetic test analyzes the TWNK gene to detect mutations associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 (PEOA3).

Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["TWNK gene sequence", "Copy number variants (CNVs) in TWNK gene"]
Parameters
[]
Preparation
[]
Indications
["Clinical features of progressive external ophthalmoplegia", "Ptosis", "Mitochondrial myopathy", "Family history suggesting autosomal dominant inheritance"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81247-9 ICD-10: H49.81
Clinical summary
This genetic test analyzes the TWNK gene to detect mutations associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 (PEOA3).
TEST-5206
TWNK Gene MTDPS7 Genetic Test

This test identifies pathogenic variants in the TWNK gene associated with mitochondrial DNA depletion syndrome type 7 (MTDPS7).

Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA 3–4 weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the TWNK gene", "SNVs (Single Nucleotide Variants)", "Indels (Insertions/Deletions)", "CNVs (Copy Number Variants)"]
Parameters
[]
Preparation
["No special preparation required", "Ensure patient is haemodynamically stable and afebrile before sample collection"]
Indications
["Suspected mitochondrial DNA depletion syndrome type 7 (MTDPS7)", "Early clinical intervention", "Family planning", "Tailored neurological management"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81247-9 ICD-10: E88.49
Clinical summary
This test identifies pathogenic variants in the TWNK gene associated with mitochondrial DNA depletion syndrome type 7 (MTDPS7).

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 wellnessβ€”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.