CUTIS LAXA: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cutis Laxa panel analyzes genes involved in this inherited connective tissue disorder, characterized by progressive skin laxity and possible systemic manifestations affecting the cardiovascular, respiratory, or skeletal systems. Using next-generation sequencing (NGS) with detection of single-cell variants (SNVs), indels, and single-cell variants (CNVs), it identifies mutations responsible for autosomal dominant, recessive, and X-linked forms, affecting elastin synthesis, extracellular matrix, and mitochondrial metabolism. Genes included: ALDH18A1, ATP6V0A2, ATP7A, COG7, EFEMP1, EFEMP2, ELN, FBLN5, GORAB, LTBP1, LTBP4, PTDSS1, PYCR1, RIN2, SLC2A10, TALDO1.
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