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The Blueprint Genetics Mitochondrial Disorders Panel is a comprehensive genetic test designed to detect variants in mitochondrial DNA (mtDNA) and mutations in nuclear DNA associated with mitochondrial diseases. These conditions are complex and can affect multiple organ systems, including muscles, nerves, heart, and brain.
Mitochondrial disorders may not be identified solely through nuclear gene sequencing. The combination of nuclear and mitochondrial DNA testing is a powerful tool for patients with clear genetic conditions where nuclear DNA sequencing could yield negative results.
It is estimated that mitochondrial diseases affect about 1 in 5,000 people worldwide, representing a significant population in a country as large as Brazil.
Source: blog.mendelics.com.br
Consider this test in the following cases:
The panel includes:
It includes both mitochondrial and nuclear genes. Examples of genes covered are:
The methodology used for this test is as follows:
Saliva: 30 minutes of total fasting.
Up to 10 days.
Medical request.
| Type | Description |
| Technical | Next-Generation Sequencing (NGS) + Sanger |
| Accuracy | 99% |
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