Dermatology
About this category
The genetic basis of skin diseases may include, for example, mutations in skin pigment cells (as in the case of abinism), mutations leading to improper connection of the epidermis and dermis (epidermal blistering) or mutations causing hyperkeratosis of the epidermis and impaired removal of the epidermis (ichthyosis).
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
13 panels-
Acrodermatitis enteropathica
2 genesSLC30A2; SLC39A4
530 EURDetails -
Adams-Oliver Syndrome
8 genesARHGAP31; DLL4; DOCK6; EOGT; KCTD1; NOTCH1; RBPJ; UBR1
615 EURDetails -
Albinism
26 genesAP3B1; AP3D1; BLOC1S3; BLOC1S6; C10orf11; CACNA1F; DTNBP1; EDNRB; GPR143; HPS1; HPS3; HPS4; HPS5; HPS6; LYST; MC1R; MITF; MLPH; MYO5A; OCA2; RAB27A; SLC24A5; SLC38A8; SLC45A2; TYR; TYRP1
615 EURDetails -
Cutis laxa
13 genesALDH18A1; ATP6V0A2; ATP6V1A; ATP6V1E1; ATP7A; EFEMP2; ELN; FBLN5; GORAB; LTBP4; PYCR1; RIN2; SLC2A10
615 EURDetails -
Dyskeratosis
13 genesACD; AK2; CTC1; DKC1; NHP2; NOP10; PARN; RTEL1; TERC; TERT; TINF2; USB1; WRAP53
615 EURDetails -
Ectodermal dysplasia
43 genesBCS1L; C1orf172; CDH3; CST6; CYP26C1; DSP; EDA; EDAR; EDARADD; ERCC2; EVC; EVC2; GJB2; GJB6; GRHL2; HOXC13; HR; IFT122; IFT43; JUP; KREMEN1; KRT74; KRT85; LRP6; MBTPS2; MPLKIP; MSX1; NFKBIA; NLRP1; PAX9; PKP1; PORCN; PRKD1; PVRL1; PVRL4; RMRP; SMARCAD1; TP63; TSPEAR; TWIST2; WDR19; WDR35; WNT10A
615 EURDetails -
Epidermolysis bullosa
30 genesATP2C1; CD151; CDSN; COL17A1; COL7A1; CSTA; DSG1; DSG2; DSG4; DSP; DST; EXPH5; FBLIM1; FERMT1; GRIP1; ITGA3; ITGA6; ITGB4; JUP; KLHL24; KRT1; KRT14; KRT5; LAMA3; LAMB3; LAMC2; MMP1; PKP1; PLEC; TGM5
615 EURDetails -
Hermansky-Pudlak syndrome
23 genesABCA3; AP3B1; AP3D1; BLOC1S3; BLOC1S6; DKC1; DTNBP1; GPR143; HPS1; HPS3; HPS4; HPS5; HPS6; LYST; OCA2; SFTPB; SFTPC; SLC45A2; TERC; TERT; TINF2; TYR; TYRP1
615 EURDetails -
Ichthyosis
56 genesABCA12; ABHD5; ALDH3A2; ALOX12B; ALOXE3; AP1B1; AP1S1; ASPRV1; CASP14; CDSN; CERS3; CLDN1; CSTA; CYP4F22; EBP; ELOVL4; ERCC2; ERCC3; FLG; GBA; GJA1; GJB2; GJB3; GJB4; GTF2E2; GTF2H5; KDSR; KRT1; KRT10; KRT2; KRT9; LIPN; LOR; MBTPS2; MPLKIP; NIPAL4; NSDHL; OSMR; PEX7; PHYH; PNPLA1; PNPLA2; POMP; RNF113A; SDR9C7; SLC27A4; SNAP29; SPINK5; SRD5A3; ST14; STS; SULT2B1; SUMF1; TARS; TGM1; TGM5
615 EURDetails -
Neurofibromatosis type I and II
9 genesKIT; KITLG; LZTR1; NF1; NF2; PTPN11; RAF1; SMARCB1; SPRED1
615 EURDetails -
Pachyonychia congenita
7 genesAAGAB; KRT16; KRT17; KRT6A; KRT6B; KRT6C; TRPV3
615 EURDetails -
Progeria and related syndromes
21 genesAGPAT2; ALDH18A1; B4GALT7; BANF1; BLM; BSCL2; COL3A1; ERCC2; ERCC4; ERCC5; ERCC6; ERCC8; GORAB; LMNA; POLD1; POLR3A; PYCR1; RECQL4; SLC25A24; WRN; ZMPSTE24
615 EURDetails -
Waardenburg syndrome
8 genesEDN3; EDNRB; KIT; MITF; PAX3; SNAI2; SOX10; TYR
615 EURDetails
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