IllnessEpidermodysplasia verruciformis, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Epidermodysplasia verruciformis comprising 3 or 7 curated genes according to the clinical signs

EP2468

Number of genes

7 Accredited laboratory test

Examined sequence length

5,6 kb (Core-/Core-canditate-Genes)
10,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CIB1	944	602293	NM_001277764.2	AR
TMC6	2418	605828	NM_001127198.5	AR
TMC8	2181	605829	NM_152468.5	AR
CORO1A	1386	605000	NM_007074.4	AR
IL7	534	146660	NM_000880.4	AR
MST1	2178	142408	NM_020998.3	AD
RHOH	576	602037	NM_001278359.2	AR

Informations about the disease

Clinical Comment

Genodermatosis characterized by chronic infection with human papillomavirus leading to polymorphous cutaneous lesions + high risk of developing non melanoma skin cancer

Synonyms

Alias: Lewandowsky-Lutz-Dysplasie
Alias: Genodermatose mit chronischer HPV (humanes Papillomvirus)-Infektion
Alias: Lutz-Lewandowsky epidermodysplasia verruciformis
Epidermodysplasia verruciformis (TMC6)
Epidermodysplasia verruciformis 2 (TMC8)
Epidermodysplasia verruciformis 3 (CIB1)
Epidermodysplasia verruciformis [lit.] (MST1)
Epidermodysplasia verruciformis, susceptibility to, 4 (RHOH)
Epidermodysplasia verruciformis, susceptibility to, 5 (IL7)
Immunodeficiency 8 (CORO1A)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined