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Mitochondrial & Oxidative Phosphorylation Disorders

mtDNA Depletion/Complex Deficiency Panels

Catalog role labels reflect current assignments. Test choice, timing and prices require clinician or laboratory confirmation.

  • KMLTTB Regulated Laboratory
  • ISO 9001:2015 Quality System
  • Free Pre-Test Counselor Guidance
  • Nationwide & Home Sample Collection

Test comparison

192 tests

All diagnostic topics
First-line screen

MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

TARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 21 Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card. A detailed clinical history and pedigree chart of affected family members are required.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test

Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks Typically 3 to 4 weeks.
Price
KSh 40,000
First-line screen

MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 Genetic Test

Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test

Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 Genetic Test

Sample type
Blood sample. Confirm specific collection requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 Genetic Test

Sample type
Blood sample, Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 Weeks 3 to 4 weeks.
Price
KSh 40,000
First-line screen

SLC16A1 Gene Erythrocyte Lactate Transporter Defect Genetic Test

Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen

LDHB Gene Lactate Dehydrogenase B Deficiency Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

MTTL1 Gene MELAS Syndrome MTTL1 Related Genetic Test

Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test

Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test

Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic Genetic Test

Sample type
Blood sample (EDTA tube) or Extracted DNA or One drop of Blood on FTA Card.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

DLAT Gene Pyruvate Dehydrogenase E2 Deficiency Genetic Test

Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks 3 to 4 weeks.
Price
KSh 40,000
First-line screen

Lias Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test

Sample type
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Results are typically available within 3 to 4 weeks. Confirm current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
Turnaround
4 Weeks Approximately 3 to 4 weeks. Confirm current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

MTRNR1 Gene Deafness Nonsyndromic Sensorineural Mitochondrial Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

TRMU Gene Mitochondrial Modifier of Deafness Genetic Test

Sample type
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks 3 to 4 Weeks.
Price
KSh 40,000

Clinical context

Clinical testing guide & how to choose

Tests in Mitochondrial & Oxidative Phosphorylation Disorders answer different clinical questions. This catalogue supports a conversation with your clinician or counselor; it does not establish a diagnosis or replace an individual assessment.

Choosing a test

A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation.

Before sample collection

Confirm the required tube, sample volume, any fasting instructions and the collection deadline for your chosen test. Tell the collection team about medication and recent treatment. Do not stop prescribed medication unless your clinician advises it. Home collection depends on the sample’s handling and transport requirements.

Common questions

Questions before booking

Should I choose a panel or a single-marker test for Mitochondrial & Oxidative Phosphorylation Disorders?

A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation. Free pre-test counselor guidance is available to help you understand the booking options.

Can I use SHIF/SHA or private insurance for these tests?

Coverage depends on your scheme, the specific test, referral and authorization requirements, and the provider arrangement. Before booking, ask the laboratory and your insurer to verify eligibility, any co-payment, and whether direct billing or reimbursement applies. Listing a test here does not guarantee insurance coverage.

When should I arrange sample collection?

Check the sample and preparation notes for the specific test, then confirm the collection time and reporting deadline with the laboratory. Same-day reporting, where listed, may depend on a collection cutoff and working days. Nationwide and home sample collection are available subject to location, sample suitability and transport arrangements.

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Services in this topic

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Mitochondrial Genome Sequencing Data Analysis

Mitochondrial Genome Sequencing Data Analysis examines the genetic material in mitochondria, which are responsible for energy production in cells. This test can help identify genetic variations linked to mitochondrial diseases, potentially affecting muscles and nerves. The service is available across Kenya.

Service details →

Quick factsheet

Sample
Preparation
Turnaround