HEREDITARY AMYLOIDOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 34 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Amyloidosis Panel analyzes 34 genes associated with disorders characterized by the abnormal accumulation of misfolded proteins in various tissues and organs, leading to progressive multi-organ dysfunction. This panel covers different forms of familial amyloidosis, including transthyretin amyloidosis (ATTR), apolipoprotein amyloidosis (APOA1, APOA2, APOE), gelsolin amyloidosis (GSN), and hereditary autoinflammatory forms associated with secondary amyloid deposits (such as those related to MEFV or NLRP3). Genes involved in the regulation of protein folding, peptide processing, and the systemic inflammatory response are also included. Some of the genes included in this panel are TTR, APOA1, APOA2, GSN, PRNP, MEFV, NLRP3, and TNFRSF1A, among others. For a complete list of genes, please contact Genotica.
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