Copper Metabolism Disorders Panel


Whole Genome Sequencing 30X

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

The Copper Metabolism Disorders panel is a genetic test used to identify mutations in genes involved in copper metabolism, including ATP7A and ATP7B. Mutations in these genes can lead to a variety of conditions, such as Menkes disease and Wilson disease, which affect copper transport and metabolism in the body. The panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of copper metabolism disorders or individuals with symptoms of the conditions, such as neurological problems, liver disease, or hair and skin abnormalities. Genetic testing can confirm a diagnosis, inform treatment and management decisions, and guide family planning. Testing can also 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 8 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Wilson's disease
  • Menkes disease
  • ATP7A-related copper transport disorders
  • Occipital horn syndrome

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