ECTODERMAL DYSPLASIAS: CLINICAL EXOME PANEL (Sec. & CNVs) – 110 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Ectodermal Dysplasias Panel analyzes 110 genes associated with a group of inherited disorders of ectodermal development, primarily affecting the skin, hair, nails, teeth, and sweat glands, and potentially forming part of multisystemic syndromes. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies variants in genes involved in the EDA/NF-κB signaling pathway, the WNT pathway, and the processes of epithelial differentiation, keratinization, and cell adhesion. Key genes include: EDA, EDAR, EDARADD, WNT10A, WNT10B, TP63, GJB6, KRT14, KRT17, DLX3, LRP6, MBTPS2, FLNA, JUP, DSP, DSG4, FGFR2, and FGFR3. For a complete list of genes included in the panel, please contact Genotica.
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