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XomeDxSlice

XomeDxSlice

A Phenotype-driven Targeted Exome Test… Build your own panel

Test Name Description/Genes More Information
XomeDxSlice
(A phenotype-driven targeted exome test)
XomeDxSlice captures and sequences the whole exome, but analysis is targeted to a limited and specific phenotype-driven gene list. The phenotype-driven gene list must be submitted using the XomeDxSlice online submission tool by the ordering provider. Please review the instructions below.XomeDxSlice is best suited for individuals with a clearly defined, oligogenic phenotype where a comprehensive gene panel is not available, or the patient has a single gene disorder for which clinical testing is not currently available.
Epidermolysis Bullosa (EB) XomeDxSlice

COL7A1, COL17A1, ITGA6, ITGB4, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PLEC1

Other epidermal-expressed genes, genes for rare bullous disorders, and genes of research interest: CD151, CDSN, CHST8, CSTA, DSG1, DSG2, DSG3, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3 , MMP1, NID1, PKP1, TGM5

Congenital Ichthyosis XomeDxSlice

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, FLG, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4 (Ichthyin), PEX7, PHYH, PNPLA1, PNPLA2, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24

 Test Info Sheet

 Diagnostic Sensitivity

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