TYROSINEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Tyrosinemia Panel analyzes seven genes involved in various inherited disorders of tyrosine metabolism, which lead to a toxic accumulation of metabolites with progressive damage to the liver, kidneys, skin, and central nervous system. This panel covers the three main forms of tyrosinemia: type I (FAH), associated with liver failure and a risk of hepatocellular carcinoma; type II (TAT), which presents with skin and eye lesions; and type III (HPD), characterized by developmental delay and mild neurological symptoms. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the analysis identifies pathogenic variants in key genes involved in tyrosine catabolism and the intermediate metabolism of aromatic amino acids. Some of the genes included in this panel are: FAH, HPD, TAT, HGD, GSTZ1, SLC25A13, and RHBDF2.
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