ELASTIC PSEUDOXANTHOMA: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
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.
Other tests
Exome panel analysis of 29 genes - idiopathic pulmonary fibrosis and surfactant protein deficiency
990,00€
511 gene analysis - epilepsy (using exome sequencing)
1.495,00€
Exome analysis of AGXT, GRHPR, and HOGA1 genes - primary hyperoxaluria
690,00€