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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 MyGenome 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
See more about the product
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  • 1.

    Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.

  • 2.

    The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.

  • 3.

    This sequencing process reveals the order of nucleotides that make up the original DNA sample.

  • 4.

    We then compare the genome with a generic and globally recognized reference DNA sequence.

Simple Blood Sample Collection

Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.

Simply follow the packaging instructions and send the sample back using the pre-paid returns label.

Genomic Consultation Service

Additional reports

Check out the full range of our additional reports, available upon completion of the Genome Test.

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