Nuclear Mitochondrial Genes Report
Nuclear Mitochondrial Genes
Nuclear Mitochondrial Genes report is used to identify nuclear genetic variants associated with mitochondrial diseases, a group of rare genetic disorders that affect the energy-producing organelles in cells. Mitochondrial diseases can affect any organ or tissue in the body and can cause a wide range of symptoms, including muscle weakness, developmental delay and cardiomyopathies. Mitochondrial diseases caused by nuclear gene mutations can impair mitochondrial function, metabolism and stability.
More than 90 genes analyzed genes analyzed
It is recommended if:
This report is designed for individuals with a family history of mitochondrial diseases caused by nuclear mutations or individuals with symptoms of the conditions, such as muscle weakness, developmental delay and cardiomyopathies. Genetic testing can confirm a diagnosis, provide information on disease severity and progression and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.
List of main conditions:
- Autosomal dominant optic atrophy
- Alpers–Huttenlocher Syndrome
- Leigh syndrome
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FAQs
How will my data be used?
Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.
How can my doctor use the results?
You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you.
How will I receive my reports?
The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.
*Raw data will be available free of charge for the first 30 days after release.
How can I add other reports to my account?
At any time, you can log into your Genome Manager account and visit the Shop section. Here you will find a catalog with more than 150 additional reports dedicated to all areas of health. In addition, by subscribing to our newsletter you can always see new reports and panel updates.
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