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Urea cycle disorder Panel

Urea cycle disorder Panel

Regular price €29.00 EUR
Regular price Sale price €29.00 EUR
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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 the urea conditions.
Urea cycle disorder is a group of rare genetic disorders that affect the body's ability to remove ammonia from the blood. Urea cycle disorders are caused by mutations in genes involved in the urea cycle, 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 urea cycle disorders or individuals with symptoms of the condition, such as lethargy, vomiting, and seizures. 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:
  • Argininemia
  • Argininosuccinic Aciduria
  • Citrullinemia
  • N-acetylglutamate synthase deficiency
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This product is only meant for customers who already purchased a Dante Genome Test