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
1894 PLNDetails -
Adams-Oliver Syndrome
8 genesARHGAP31; DLL4; DOCK6; EOGT; KCTD1; NOTCH1; RBPJ; UBR1
2194 PLNDetails -
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
2194 PLNDetails -
Cutis laxa
13 genesALDH18A1; ATP6V0A2; ATP6V1A; ATP6V1E1; ATP7A; EFEMP2; ELN; FBLN5; GORAB; LTBP4; PYCR1; RIN2; SLC2A10
2194 PLNDetails -
Dyskeratosis
13 genesACD; AK2; CTC1; DKC1; NHP2; NOP10; PARN; RTEL1; TERC; TERT; TINF2; USB1; WRAP53
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
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
2194 PLNDetails -
Neurofibromatosis type I and II
9 genesKIT; KITLG; LZTR1; NF1; NF2; PTPN11; RAF1; SMARCB1; SPRED1
2194 PLNDetails -
Pachyonychia congenita
7 genesAAGAB; KRT16; KRT17; KRT6A; KRT6B; KRT6C; TRPV3
2194 PLNDetails -
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
2194 PLNDetails -
Waardenburg syndrome
8 genesEDN3; EDNRB; KIT; MITF; PAX3; SNAI2; SOX10; TYR
2194 PLNDetails
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