McArdle Disease Report

Dhs. 114.00

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

Simple workflow

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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.

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