SKIN DISEASES
Skin diseases such as ectodermal dysplasia, epidermolysis bullosa, ichthyosis vulgaris, and congenital ichthyoses are genetic disorders that significantly impair skin structure and function. These conditions lead to symptoms such as fragile skin, excessive keratinization, or irregular pigmentation.
Request Test
- Sample material: EDTA whole blood
- Method of analysis: Next-generation sequencing (NGS) (if applicable, Sanger sequencing, MLPA, molecular diagnostics via PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific range of tests in this field:
| INDICATION | ANALYSIS |
| Ectodermal dysplasia | Gene panel |
| Epidermolysis bullosa | Gene panel |
| Ichthyosis vulgaris | Single gene analysis (FLG) |
| Congenital ichthyosis | Gene panel |
| Congenital pigmentation disorder | Gene panel |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic characteristics.