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Aicardi-Goutières Syndrome Panel

Aicardi-Goutières Syndrome Panel

Prezzo di listino €29.00 EUR
Prezzo di listino Prezzo scontato €29.00 EUR
In offerta Esaurito

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

Aicardi-Goutières syndrome (AGS) is a serious congenital systemic condition affecting newborns.
The disease is autosomal recessive and the parents could be healthy carriers without showing symptoms. Although the majority of affected children do not present any symptoms at birth, about 20% of them immediately manifest a complex picture of hepatosplenomegaly, thrombocytopenia, increased liver enzymes and neurological alterations.
AGS syndrome is caused by mutations in 7 genes and with this genetic analysis, that takes into consideration the mutation of germline DNA and investigates SNP and Indel mutations up to 150 bp, it’s possible to confirm the disease and to allow timely action in starting appropriate therapies, including biotechnological ones.

• Available in less than 24 hours
• Based on Whole Genome Sequencing
• 7 Genes analyzed
• Investigates SNP and Indel mutations up to 150 bp

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