Hauterkrankungen

Oku­lo­ku­ta­ner Albi­nis­mus
GPR143, C10orf11 (LRMDA), MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1 (8 Gene, 12 kb)

Ein­sen­de­for­mu­lar

Her­man­sky-Pud­lak-Syn­drom
HPS1, HPS6, HPS3, HPS4, HPS5, AP3B1, BLOC1S3, BLOC1S6, DTNBP1 (9 Gene, 19 kb)

Waar­den­burg-Syn­drom und Pie­bal­dis­mus
PAX3, EPG5, EDNRB, SOX10, EDN3, MITF, TYR, KIT (8 Gene, 20 kb)

Gris­cel­li-Syn­drom und Che­di­ak-Higa­shi-Syn­drom
RAB27A, MLPH, MYO5A, LYST (4 Gene, 20 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, EPG5, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MITF, MLPH, MYO5A, PAX3, RAB27A, SOX10, TYR (21 Gene, 57 kb)

Ein­sen­de­for­mu­lar

Hyper­pig­men­tie­rung: Dow­ling-Degos-Krank­heit und ver­wand­te Erkran­kun­gen
KRT5, POFUT1, POGLUT1, PSENEN, ADAM10, ADAR, ABCB6, KITLG, SASH1, KRT14 (10 Gene, 19 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCB6, ADAM10, ADAR, BRAF, KITLG, KRT14, KRT5, MAP2K1, POFUT1, POGLUT1, PSENEN, PTPN11, RAF1, SASH1,  ST3GAL5, STK11 (16 Gene, 28 kb)

Ein­sen­de­for­mu­lar

Icht­h­y­o­se, Palmo­plant­ar­ke­ra­to­se und ver­wand­te Kera­ti­ni­sie­rungs­stö­run­gen
TGM1, ALOX12B, NIPAL4, ALOXE3, ABCA12, CYP4F22, SLC27A4, PNPLA1, KRT1, KRT10 (10 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ATP2A2, ATP2C1, CARD14, CDSN, CERS3, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, GTF2H5, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LOR, MBTPS2, MPLKIP, MVK, NIPAL4, NSDHL, PNPLA1, SDR9C7, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, TGM5, TRPV3, WNT10A (64 Gene, 122 kb)

Ein­sen­de­for­mu­lar

Epi­der­mo­ly­sis bullosa und Dif­fe­ren­zi­al­dia­gno­sen
COL7A1, LAMB3, COL17A1, LAMC2, KRT5, KRT14, LAMA3 (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
CDSN, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5 (23 Gene, 113 kb)

Ein­sen­de­for­mu­lar

Ekto­der­ma­le Dys­pla­sie
EDA, EDAR, GJA1, WNT10A, EDARADD, HOXC13, TP63, IFT122, WDR35, NFKBIA, PKP1, PVRL1 (NECTIN1), PVRL4 (NECTIN4), DLX3, WDR19, IFT43, GJB6 (17 Gene, 25 kb)

Hypot­ri­cho­se
CDH3, HR, LIPH, LPAR6, ANTXR1, CDSN, DSG4, DSP, KRT86 (9 Gene, 25 kb)

Tri­cho­thi­o­dys­tro­phie
ERCC2, GTF2E2, GTF2H5, MPLKIP (4 Gene, 4 kb)

Selek­ti­ve Zahn­a­ge­ne­sie
CTSC, DLX3, LRP6, LTBP3, MSX1, PAX9, WNT10B (7 Gene, 14 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ANTXR1, APCDD1, AXIN2, CDH3, CDSN, CTSC, DLX3, DSG4, DSP, DYNC2LI1, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, GJA1, GJB6, GRHL2, GTF2E2, GTF2H5, HOXC13, HR, IFT122, IFT43, IFT52, KCTD1, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, LRP6, LTBP3, MPLKIP, MSX1, NFKBIA, OFD1, PAX9, PKP1, POC1A,
PORCN, PVRL1 (NECTIN1), PVRL4 (NECTIN4), SNRPE, SOX18, ST14, TP63, TRPS1, UBR1, WDR19, WDR35, WNT10A, WNT10B (60 Gene, 116 kb)

Ein­sen­de­for­mu­lar

Dys­ke­ra­to­sis con­ge­ni­ta
DKC1, TINF2, TERC, RTEL1, TERT, CTC1, PARN, NHP2, NOP10, USB1, WRAP53, ACD (12 Gene, 21 kb)

Ein­sen­de­for­mu­lar

Xero­der­ma pig­mento­s­um
XPC, ERCC2, XPA, POLH, ERCC5, DDB2, ERCC4, ERCC3, ERCC1 (9 Gene, 19 kb)

Cock­ay­ne-Syn­drom und COFS-Syn­drom
ERCC6, ERCC8, ERCC5, ERCC2, ERCC1 (5 Gene, 13 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FERMT1, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4, USB1, UVSSA, XPA, XPC (19 Gene, 38 kb)

Ein­sen­de­for­mu­lar

Neu­ro­fi­broma­to­se Typ 1 und Dif­fe­ren­zi­al­dia­gno­sen
NF1, NF2, SPRED1 (3 Gene, 12 kb)

Schwan­no­ma­to­se
SMARCB1, LZTR1, NF2 (3 Gene, 6 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
LZTR1, NF1, NF2, SMARCB1, SPRED1 (5 Gene, 15 kb)

Ein­sen­de­for­mu­lar

Her­edi­tä­re hämor­rha­gi­sche Telean­giek­ta­sie
ENG, ACVRL1, SMAD4, GDF2 (4 Gene, 7 kb)

Zere­b­ra­le kaver­nö­se Fehl­bil­dung
KRIT1, CCM2, PDCD10 (3 Gene, 4 kb)

Asso­zia­ti­on mit Moya­Mo­ya
GUCY1A3 (GUCY1A1), ACTA2, CBL, JAG1, SAMHD1, SHOC2, RNF213 (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ACTA2, ACVRL1, CBL, CCM2, CECR1 (ADA2), COL3A1, ENG, EPHB4, GDF2, GUCY1A3 (GUCY1A1), JAG1, KRIT1, PDCD10, PTEN, RASA1, RNF213, SAMHD1, SHOC2, SMAD4, SOX18, THSD1 (21 Gene, 55 kb)

Ein­sen­de­for­mu­lar

Pro­ge­rie-Syn­dro­me
LMNA, WRN, RECQL4, ZMPSTE24, ERCC2, ERCC5, BLM, ERCC8, ALDH18A1 (9 Gene, 25 kb)

Lipo­dys­tro­phie
AGPAT2, BSCL2, PTRF (CAVIN1), PIK3R1, PPARG, PLIN1, PSMB8, LMNA, ZMPSTE24, CAV1, KCNJ6, PNPLA2, FBN1, POLD1 (14 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AGPAT2, ALDH18A1, ATP6V0A2, B4GALT7, BANF1, BLM, BSCL2, C1R, C1S, CAV1, COL3A1, CTC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, GTF2E2, GTF2H5, KCNJ6, LMNA, MPLKIP, OBFC1, PIK3R1, PLIN1, PNPLA2, POLD1, PPARG, PSMB8, PTDSS1, PTRF (CAVIN1), PYCR1, RECQL4, SLC25A24, WRN, ZMPSTE24 (39 Gene, 83 kb)

Ein­sen­de­for­mu­lar

Lymphö­dem
FAT4, FLT4, CCBE1, FOXC2, GJC2, VEGFC, PIEZO1 (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ABCC9, CCBE1, FAT4, FLT4, FOXC2, GATA2, GJC2, KIF11, PIEZO1,
SOX18, VEGFC (11 Gene, 43 kb)

Ein­sen­de­for­mu­lar

Kom­plet­tes Panel — Haut­er­kran­kun­gen
AAGAB, ABCA12, ABCB6, ABCC9, ABHD5, ACD, ACTA2, ACVRL1, ADAM10, ADAR, AGPAT2, ALDH18A1, ALDH3A2, ALOX12B, ALOXE3, ANTXR1, AP1S1, AP3B1, APCDD1, AQP5, ATP2A2, ATP2C1, ATP6V0A2, AXIN2, B4GALT7, BANF1, BLM, BLOC1S3, BLOC1S6, BRAF, BSCL2, C10ORF11, C1R, C1S, CARD14, CAV1, CBL, CCBE1, CCM2, CDH3, CDSN, CECR1, CERS3, CLDN1, COL17A1, COL3A1, COL7A1, CSTA, CTC1, CTSC, CYP4F22, DDB2, DKC1, DLX3, DSG1, DSG4, DSP, DST, DTNBP1, DYNC2LI1, EDA, EDAR, EDARADD, EDN3, EDNRB, ELOVL4, ENG, ENPP1, EPG5, EPHB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXPH5, FAT4, FBN1, FERMT1, FGF10, FGFR2, FGFR3, FLG, FLT4, FOXC2, GATA2, GDF2, GJA1, GJB2, GJB3, GJB4, GJB6, GJC2, GPR143, GRHL2, GTF2E2, GTF2H5, GUCY1A3, HOXC13, HPS1, HPS3, HPS4, HPS5, HPS6, HR, IFT122, IFT43, IFT52, ITGA3, ITGA6, ITGB4, JAG1, JUP, KCNJ6, KCTD1, KDSR, KIF11, KIT, KITLG, KLHL24, KRIT1, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LMNA, LOR, LPAR6, LRP6, LTBP3, LYST, LZTR1, MAP2K1, MBTPS2, MC1R, MITF, MLPH, MPLKIP, MSX1, MVK, MYO5A, NF1, NF2, NFKBIA, NHP2, NIPAL4, NOP10, NSDHL, OBFC1, OCA2, OFD1, PARN, PAX3, PAX9, PDCD10, PIEZO1, PIK3R1, PKP1, PLEC, PLIN1, PNPLA1, PNPLA2, POC1A, POFUT1, POGLUT1, POLD1, POLH, PORCN, PPARG, PSENEN, PSMB8, PTDSS1, PTEN, PTPN11, PTRF, PVRL1, PVRL4, PYCR1, RAB27A, RAF1, RASA1, RECQL4, RNF213, RTEL1, SAMHD1, SASH1, SDR9C7, SERPINB7, SHOC2, SLC24A5, SLC25A24, SLC27A4, SLC45A2, SLURP1, SMAD4, SMARCB1, SNAP29, SNRPE, SOX10, SOX18, SPINK5, SPRED1, ST14, ST3GAL5, STK11, STS, SULT2B1, SUMF1, TERC, TERT, TGM1, TGM5, THSD1, TINF2, TP63, TRPS1, TRPV3, TYR, TYRP1, UBR1, USB1, UVSSA, VEGFC, WDR19, WDR35, WNT10A, WNT10B, WRAP53, WRN, XPA, XPC, ZMPSTE24

Ein­sen­de­for­mu­lar