XomeDx Slice – Congenital Ichthyosis

Clinical Use

Use

This test analyzes the whole exome but focuses analysis on a phenotype‑driven targeted gene list associated with congenital ichthyosis and related disorders, aiding diagnosis in patients presenting with ichthyosis phenotypes. It reports pathogenic, likely pathogenic, and variants of uncertain significance within the targeted genes; benign variants are not routinely reported. The test may help identify sequence variants and multi‑exon deletions or duplications in the selected genes for clinical diagnosis and genetic counseling.

Special Instructions

Not provided.

Limitations

Technical sensitivity is >99% for both sequencing and detection of deletions/duplications of three or more coding exons. However, smaller deletions or duplications may not be reliably identified. Coverage is ≥99% at ≥10× read depth for most genes, with KRT9 and POMP at ~94%. Certain regions, including keratin genes and FLG/FLG2, may yield suboptimal data, potentially missing variants in those regions.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (43 genes)

ABCA12ABHD5AGPSALDH3A2ALOX12BALOXE3AP1S1ARSECASP14CERS3CLDN1CYP4F22EBPELOVL4FLGGJB2GJB3GJB4GJB6KRT1KRT10KRT2KRT9LIPNLORNIPAL4PEX7PHGDHPHYHPNPLA1PNPLA2POMPPSAT1SDR9C7SLC27A4SNAP29SPINK5ST14STSTGM1TGM5VPS33BZMPSTE24