Mitochondriopathies

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Comprehensive Evaluation of Mitochondrial Variants

Genomic Testing Tailored for Mitochondrial Dysfunction

DNA GTx’s Mitochondriopathies Panel analyzes 37 mitochondrial genes to detect mutations in mitochondrial DNA that impair cellular energy production. This test aids in diagnosing mitochondrial disorders such as MCHS (Mitochondrial Cytopathy, Hypotonia, and Stroke-like episodes), AHS (Alpers-Huttenlocher Syndrome), CLA (Chronic Lactic Acidosis), and other related conditions.

What it Screens for

Alpers-Huttenlocher Syndrome (AHS)

This affects the brain and liver, causing seizures, developmental loss, and liver damage.

Ataxia Neuropathy Spectrum (ANS;MIRAS;SANDO)

A rare POLG-related disorder that affects how cells produce energy in mitochondria, leading to balance problems, nerve damage, and sometimes seizures.

Childhood Progressive External Opthalmoplegia (CPEO)

This leads to dropping eyelids, limited eye movement, and sometimes muscle weakness.

Congenital Lactic Acidosis (CLA)

This causes buildup of lactic acid in the body, causing poor growth, muscle weakness, breathing difficulties, and developmental delays.

Kearns-Sayre Syndrome (KSS)

This leads to eye muscle weakness, drooping eyelids, heart problems, and other systemic symptoms.

Laber Hereditary Optic Neuropathy (LHON)

This causes sudden vision loss, usually in young adults.

MEGDEL Syndrome

This leads to developmental delays, hearing loss, movement difficulties, muscle weakness, and metabolic problems.

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome

This causes muscle weakness, brain dysfunction, lactic acid buildup, and stroke-like episodes.

Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA;SCAE)

This leads to muscle weakness, seizures, balance and coordination problems, and nerve-related symptoms.

Myoclonic Epilepsy with Ragged Red Fibres (MERRF)

This causes seizures, muscle weakness, coordination problems, and nerve issues.

Neurogenic Muscle Weakness, Ataxia and Retinitis Pigmentosa (NARP)

This leads to muscle weakness, balance problems, and progressive vision loss.

Pearson Syndrome

This primarily impacts the bone marrow and pancreas, causing anemia, growth problems, and metabolic issues.

Sengers Syndrome

This causes heart muscle problems, cataracts, muscle weakness, and exercise intolerance.

Key Benefits

Targets Mitochondrial DNA Mutation: Detects changes that affect cellular energy production.
Supports Early & Accurate Diagnosis: Helps identify causes of complex, multisystem symptoms.
Applicable Across Age Groups: Useful in pediatric and adult-onset mitochondrial diseases.
Guides Personalized Management: Enables tailored care and family counseling based on genetic findings.