McArdle Disease Report


McArdle Disease

McArdle Disease is a metabolic myopathy caused by an enzymatic defect that does not allow energy production in muscle tissue, resulting in exercise-induced painful cramps, premature muscle fatigue, rhabdomyolysis and myoglobinuria. The inheritance is autosomal recessive and the age of onset is in childhood.

1 genes analyzed

It is recommended if:

Among the various clinical investigations that can be done to evaluate McArdle Disease, the genetic test is the one that allows the diagnosis to be established with certainty, through the identification of homozygous or compound heterozygous variants in the PYGM gene.

List of main conditions:

  • McArdle disease
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp


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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