Lysosomal Storage Disorders Panel


Whole Genome Sequencing 30X

This product is only meant for customers who already purchased a Dante Genome Test

The genetic variants analyzed in this panel are closely related to or, potentially, the cause of major lysosomal conditions
Lysosomal storage disorders is a group of rare genetic disorders that affect various organs and tissues, including the brain, bones, and connective tissues. Lysosomal storage disorders are caused by mutations in genes involved in lysosomal function and metabolism, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of lysosomal storage disorders or individuals with symptoms of the conditions, such as developmental delay, bone abnormalities, and vision and hearing loss. 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.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 10 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Fabry disease
  • Glycogen storage disease II
  • Krabbe disease
  • GM1-gangliosidosis

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