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Wilson Disease Panel

Wilson Disease Panel

Prezzo di listino €49.00 EUR
Prezzo di listino Prezzo scontato €49.00 EUR
In offerta Esaurito

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

 

Wilson's disease is a rare and congenital alteration of copper metabolism transmitted in an autosomal recessive manner. It is caused by the pathological accumulation of copper in some body tissues, in particular the eyes, liver and brain.

The derangements in copper homeostasis caused by Wilson disease generally appear between the second and third decades of life, with hepatic and neuropsychiatric manifestations.

The mutations underlying this pathology are borne by a single gene, ATP7B, which codes for a protein responsible for the elimination of excess copper through the bile. Although this element is essential for many biological functions (it is an important enzymatic cofactor), excessive quantities are toxic and must therefore be disposed of.This test is especially useful for people with symptoms attributable to Wilson's or with a family history of the disease1 gene responsible for Wilson's.

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
  • 1 gene responsible for Wilson analyzed
  • Investigates SNP and Indel mutations up to 150 bp


Click here to see all the genes analyzed

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Questo prodotto è destinato esclusivamente ai clienti che hanno già acquistato un test MyGenome