ELASTIC PSEUDOXANTHOMA: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Pseudoxanthoma Elasticum panel analyzes three genes associated with this connective tissue disease characterized by calcification and fragmentation of elastic fibers, with cutaneous, ocular, and cardiovascular involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies alterations in genes that regulate calcium and inorganic pyrophosphate metabolism, essential for extracellular matrix integrity. Genes included: ABCC6, ENPP1, GGCX.
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