Broj gena
160
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu
Uzorak
Puna krv
Opis
CentoSkin je dijagnostički test za pacijente koji pokazuju poremećaje kože. Panel uključuje gene za hipotrihozu, epidermolizu bulosu i kongenitalnu ihtiozu, između ostalih. Osim toga, CentoSkin testira albinizam i druga stanja sa sličnim poremećajima pigmentacije, kao što su Hermansky–Pudlakov sindrom, Griscellijev sindrom i Waardenburgov sindrom.
Geni
ABCA12, ABHD5, ACD, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AP3B1, AP3D1, APCDD1, ARHGAP31, ARSL, ATP6V0A2, ATP7A, BLOC1S3, BLOC1S6, CASP14, CDSN, CERS3, CHST8, CLDN1, COL17A1, COL5A1, COL7A1, CPOX, CSTA, CTC1, CYP4F22, DDB2, DKC1, DLL4, DOCK6, DSG1, DSG4, DSP, DST, DTNBP1, EBP, EDA, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, ELN, ELOVL4, EOGT, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXPH5, FBLN5, FECH, FERMT1, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, GPR143, GTF2H5, HMBS, HPS1, HPS3, HPS4, HPS5, HPS6, HR, ITGA3, ITGA6, ITGB4, JUP, KCTD1, KDSR, KITLG, KRT1, KRT10, KRT14, KRT2, KRT5, KRT74, KRT85, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LIPN, LORICRIN, LPAR6, LRMDA, LYST, MBTPS2, MC1R, MITF, MLPH, MMP1, MPLKIP, MYH9, MYO5A, NECTIN1, NHP2, NIPAL4, NOP10, NOTCH1, NSDHL, OCA2, PARN, PAX3, PEX7, PHGDH, PHYH, PKP1, PLEC, PNPLA1, POLH, POMP, PPOX, PSAT1, PYCR1, RAB27A, RBPJ, RPL21, RTEL1, SDR9C7, SERPINB8, SLC24A5, SLC27A4, SLC38A8, SLC45A2, SNAI2, SNAP29, SNRPE, SOX10, SPINK5, ST14, STS, SUMF1, TERT, TGM1, TGM5, TINF2, TYR, TYRP1, UROD, UROS, USB1, VPS33B, WNT10A, WRAP53, XPA, XPC, ZMPSTE24