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Mitochondrial Disorders Genetic Testing

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Mitochondrial Disorders Genetic Testing

Mitochondrial Disorders Genetic Testing is a diagnostic tool used to detect mutations in mitochondrial DNA (mtDNA) or nuclear DNA that affect how mitochondria function. Mitochondria are the energy-producing parts of cells, and defects can lead to serious, often multisystem conditions impacting the brain, muscles, heart, and liver. This test is vital for identifying disorders like MELAS, MERRF, and Leigh syndrome. It is typically recommended for individuals showing unexplained neurological, muscular, or metabolic symptoms. The testing helps confirm a diagnosis, guide clinical management, support early interventions, and assess risks for family members through genetic counseling and inheritance pattern analysis.

Why Choose This Mitochondrial Genetic Testing?

Mitochondrial genetic testing is a crucial step toward understanding and managing complex, energy-related disorders that often involve multiple organs. These conditions can present with a wide range of symptoms, making clinical diagnosis challenging without genetic confirmation. By pinpointing specific mutations in mitochondrial or nuclear DNA, this testing enables accurate diagnosis, targeted treatment plans, and proactive symptom management. It also provides valuable insight into inheritance patterns, helping families make informed reproductive and healthcare decisions. Choosing this test ensures timely intervention, improves long-term outcomes, and opens the door to ongoing research, clinical trials, and specialized care tailored to mitochondrial disease.

When Is It Used?
  • Unexplained Neurological Symptoms – When patients present with seizures, developmental delays, or muscle weakness without a clear cause.
  • Multi-organ Involvement – When multiple systems (e.g., brain, heart, liver, muscles) are affected in unusual or unexplained ways.
  • Family History of Mitochondrial Disease – If there’s a known maternal inheritance pattern or relatives with mitochondrial disorders.
  • Persistent Metabolic Abnormalities – Such as lactic acidosis or abnormal blood/urine metabolic profiles.
  • Muscle or Exercise Intolerance – When patients show fatigue, muscle pain, or poor endurance.
  • Hearing or Vision Loss – Especially when progressive and without other clear causes.
  • Diagnostic Confirmation – To confirm a suspected clinical diagnosis based on symptoms and biochemical testing.
Who Should Consider Mitochondrial Genetic Testing?

Mitochondrial genetic testing should be considered by individuals experiencing unexplained, chronic symptoms involving the brain, muscles, or multiple organ systems, especially when standard diagnostic tests are inconclusive. It is particularly important for those with a known family history of mitochondrial disorders, as these conditions can be inherited through the maternal line or via nuclear gene mutations. Testing can provide clarity, enable early intervention, and inform family planning decisions. Genetic counseling is often recommended before and after testing to fully understand the results and implications.

You should consider this test if:

  • Individuals with progressive neurological or muscular symptoms.
  • Patients with multi-organ dysfunction without a clear diagnosis.
  • People with persistent metabolic abnormalities (e.g., elevated lactate).
  • Individuals with a known family history of mitochondrial disease.
  • Children with developmental delays or regression. Adults with unexplained fatigue, hearing loss, or vision changes.
  • Individuals seeking confirmation of a clinical diagnosis or considering family planning.
How We Work
How is the Test Performed?

Step 1

Clinical Evaluation

A healthcare provider reviews the patient’s medical history, symptoms, and family history to determine if mitochondrial testing is appropriate.

Step 2

Pre-Test Genetic Counseling

A genetic counselor explains the purpose, potential outcomes, and implications of the test, helping the patient make an informed decision.

Step 3

Sample Collection

A blood sample is typically collected, though in some cases, muscle, skin, or urine samples may be needed for more detailed analysis.

Step 4

DNA Extraction

DNA is extracted from the collected sample to isolate both mitochondrial DNA (mtDNA) and, if needed, nuclear DNA.

Step 5

Genetic Sequencing

Advanced sequencing techniques (like next-generation sequencing or whole exome sequencing) are used to identify mutations in mitochondrial or nuclear genes.

Step 6

Data Analysis & Interpretation

Bioinformatics tools analyze the DNA data to detect pathogenic variants, which are reviewed by clinical geneticists for relevance to symptoms.

Step 6

Post-Test Genetic Counseling

The results are explained to the patient, including what the findings mean for diagnosis, treatment options, and inherited risk.

Step 6

Report Generation

A detailed report is prepared, summarizing identified mutations, clinical significance, and recommendations for further management or family testing.

Our Services
Just a few of the many health issues we screen for
Barth Syndrome

An inherited condition affecting heart and muscle function, causing fatigue, growth delay, and neutropenia linked to mitochondrial abnormalities.

NARP

Neuropathy, Ataxia, and Retinitis Pigmentosa Causes nerve damage, coordination difficulties, and progressive vision loss related to mitochondrial dysfunction.

Friedreich Ataxia

A genetic disorder causing progressive nervous system damage and movement problems, sometimes linked with mitochondrial dysfunction.

Cytochrome c Oxidase Deficiency

Leads to muscle weakness and neurological impairment due to defective mitochondrial enzyme affecting cellular respiration.

Kearns-Sayre Syndrome Spectrum Disorders

A group of mitochondrial diseases causing eye, muscle, and heart problems with variable symptoms and severity.

Chronic Progressive External Ophthalmoplegia

Gradual paralysis of eye muscles causing drooping eyelids and limited eye movement, often linked to mitochondrial DNA deletions.

Who we Are
Why Choose Us?
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State-of-the-Art Digital Lab Experience

Our fully integrated E-Lab platform offers online test ordering, real-time tracking, and secure digital reporting bringing convenience and control to both physicians and patients across the country.

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Advanced Diagnostic Technology

From routine blood tests to complex genetic panels, we leverage cutting-edge platforms like NGS, PCR, and AI-powered analytics for maximum accuracy and clinical relevance.

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Fast Turnaround, Local Support

With lab facilities based in Florida, we ensure faster processing times and direct access to our expert team. You get timely results backed by responsive, local customer support.

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