Mitochondrial Genome

What is the mitochondrion?
It is the cell organelle where cell respiration takes place. It carries its own circular genome that contains a small number of genes in which mutations associated with different diseases have been described.

What do we do?
We can sequence THE WHOLE human mitochondrial genome.

What is it for?
Identification and analysis of mutations affecting the mitochondrial genome that may cause disease. They include substitutions and small insertions and deletions, as well as CNVs included within the amplified region. It allows us to confidently identify heteroplasmy with a frequency of >5%.

Who is it for?
Medical practitioners in cardiology, pediatrics, endocrinology, neurology and other areas; researchers with an interest in mitochondrial genetics.

Family study of a mutation detected in mitochondrial genome:
Performed by massive parallel sequencing (NGS), it determines not only whether the variant is present but also the level of heteroplasmy in carriers.

Informed consent
Mitochondrial Genome

What is the mitochondrion?

It is the cell organelle where cell respiration takes place. It carries its own circular genome that contains a small number of genes in which mutations associated with different diseases have been described.

What do we do?
We can sequence THE WHOLE human mitochondrial genome.

What is it for?
Identification and analysis of mutations affecting the mitochondrial genome that may cause disease. They include substitutions and small insertions and deletions, as well as CNVs included within the amplified region. It allows us to confidently identify heteroplasmy with a frequency of >5%.

Who is it for?
Medical practitioners in cardiology, pediatrics, endocrinology, neurology and other areas; researchers with an interest in mitochondrial genetics.

Family study of a mutation detected in mitochondrial genome:

Performed by massive parallel sequencing (NGS), it determines not only whether the variant is present but also the level of heteroplasmy in carriers.

Informed consent

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