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Urea cycle disorder Panel

Urea cycle disorder Panel

Regular price €49.00 EUR
Regular price Sale price €49.00 EUR
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Urea cycle disorders are inborn errors of metabolism resulting from defects in one of the enzymes or transporter molecules involved in the hepatic removal of ammonia from the bloodstream. Removal of ammonia from the bloodstream normally occurs via its conversion to urea, which is then excreted by the kidneys. Consequently, urea cycle disorders lead to an accumulation of ammonia. Ammonia is extremely toxic, particularly to the central nervous system. Newborns with severe mutations in any one of the first four enzymes of the urea cycle can become catastrophically ill within 36 to 48 hours of birth despite appearing normal at birth. It is therefore possible for a newborn to be discharged from the hospital before signs of urea cycle disorders develop.


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    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.

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