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Dermatological Diseases

ADAMS-OLIVER SYNDROME: 14 genes – Delivery time: 3-4 weeks

ARHGAP31, DLL4, DOCK6, DSP, EOGT, ITGA6, ITGB4, KCTD1, KRAS, KRT5, MYH9, NOTCH1, RBPJ, UBR1

ALBINISM: 27 genes – Delivery time: 3-4 weeks

AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1

ALBINISM, OCULOCUTANEOUS (OCA): 26 genes – Delivery time: 3-4 weeks

AAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, EDN3, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1

COLLAGENOPATHIES AND CONNECTIVE TISSUE RELATED DISORDERS: 194 genes – Delivery time: 3-4 weeks

ABCB11, ABCB4, ABCC2, ABCC6, ABCG5, ABCG8, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, AKR1D1, ALDH18A1, ALDOB, ALPL, AMACR, ARIH1, ATP6V0A2, ATP7A, ATP8B1, B3GALT6, B3GAT3, B4GALT7, BAAT, BGN, C1R, C1S, CANT1, CBS, CC2D2A, CFTR, CHST14, CHST3, CLDN1, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CREB3L1, CREB3L3, CRTAP, CSGALNACT1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DCHS1, DGUOK, DHCR7, DSE, EFEMP1, EFEMP2, EHHADH, ELN, EPHX1, EXOC6B, FAH, FBLN5, FBN1, FBN2, FGFR3, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GGCX, GORAB, GPBAR1, HCN4, HNF1B, HSD17B4, HSD3B7, IMPAD1, INVS, ITGB4, JAG1, KCNJ2, KIF22, LAMA3, LAMB3, LAMC2, LCT, LEMD3, LIPA, LMF1, LOX, LRP2, LTBP1, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MBTPS2, MED12, MFAP5, MKS1, MPV17, MYH11, MYLK, MYO5B, NOG, NOTCH1, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, NT5E, P3H1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD2, PKHD1, PLOD1, PLOD3, PLP1, POLG, PRDM5, PRKG1, PYCR1, RIN2, SCP2, SERPINA1, SERPING1, SHOC2, SKI, SLC10A1, SLC10A2, SLC25A13, SLC26A2, SLC27A5, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMPD1, SMS, SP7, TAB2, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TJP2, TMEM216, TNFRSF1A, TNXB, TRMU, UGT1A1, UPF3B, VCAN, VIPAS39, VPS33B, WNT1, XYLT1, ZNF469

CONGENITAL ICHTHYOSIFORM ERYTHRODERMA: 60 genes – Delivery time: 3-4 weeks

ABCA12, ABHD5, ALDH3A2, ALG8, ALOX12B, ALOXE3, AP1S1, ARSE, CDSN, CERS3, CHKB, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GTF2H5, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RIN2, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TGM1, TGM5, VIPAS39, VPS33B

CUTIS LAXA: 16 genes – Delivery time: 3-4 weeks

ALDH18A1, ATP6V0A2, ATP7A, COG7, EFEMP1, EFEMP2, ELN, FBLN5, GORAB, LTBP1, LTBP4, PTDSS1, PYCR1, RIN2, SLC2A10, TALDO1

DERMATOLOGIC DISEASES, GLOBAL: 501 genes – Delivery time: 3-4 weeks

AAGAB, ABCA12, ABCA3, ABCA5, ABCC6, ABCC9, ABHD5, ABL1, ACTA2, ACVR1, ACVRL1, ADAM17, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, AGPAT2, AIRE, AK2, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALG8, ALOX12B, ALOXE3, ALPL, ANTXR1, AP1S1, AP3B1, AP3D1, APC, APCDD1, AQP5, AR, ARHGAP31, ARID1B, ARID2, ARIH1, ARSE, ATM, ATP2C1, ATP6V0A2, ATP6V1B2, ATP7A, AXIN2, B3GALT6, B3GAT3, B4GALT7, BANF1, BAP1, BCS1L, BGN, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BMP1, BMP4, BMPR1A, BMPR2, BRAF, BSCL2, C1R, C1S, CABIN1, CANT1, CAST, CAV1, CAVIN1, CBS, CD151, CDH1, CDH3, CDK4, CDKN2A, CDSN, CERS3, CHKB, CHST14, CHST3, CHST8, CHUK, CIDEC, CLCN7, CLDN1, COG6, COG7, COL11A1, COL11A2, COL12A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COQ6, CPOX, CREBBP, CRTAP, CRYL1, CSF2RA, CSGALNACT1, CST3, CST6, CSTA, CTC1, CTNND1, CTSC, CTSK, CYP4F22, DCHS1, DDB2, DICER1, DKC1, DLG4, DLL4, DLX3, DLX5, DOCK6, DOCK8, DSC2, DSE, DSG1, DSG2, DSG4, DSP, DST, DTNBP1, EBP, EDA, EDA2R, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, EGFR, ELMOD2, ELN, ELOVL4, ENG, ENPP1, EOGT, EPCAM, EPG5, EPHB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXOC6B, EXPH5, FBLN5, FBN1, FBN2, FECH, FERMT1, FGD1, FGF10, FGFR2, FGFR3, FKBP10, FKBP14, FLCN, FLG, FLNA, FLNB, FLT4, FMR1, FOXE3, FOXN1, FREM1, FZD6, GALNS, GATA3, GBA, GDF2, GGCX, GJA1, GJB2, GJB3, GJB4, GJB6, GORAB, GPR143, GRHL2, GRHL3, GRIP1, GTF2H5, HCN4, HMBS, HOXC13, HPS1, HPS3, HPS4, HPS5, HPS6, HR, HRAS, IFITM5, IFT122, IFT43, IKBKG, IMPAD1, INSR, IRF6, ITGA3, ITGA6, ITGB4, JUP, KANK2, KCNJ2, KCNJ6, KCTD1, KDM6A, KDR, KDSR, KIF22, KIT, KITLG, KMT2D, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LAMA3, LAMB3, LAMC2, LEMD3, LIG4, LIPH, LIPN, LMNA, LMNB2, LOR, LOX, LPAR6, LRMDA, LRP2, LRP6, LTBP1, LTBP2, LTBP3, LTBP4, LYST, LZTR1, LZTS1, MAP2K1, MAP2K2, MAT2A, MBTPS2, MC1R, MED12, MFAP5, MITF, MLH1, MLPH, MMP1, MMP2, MPLKIP, MSH2, MSH6, MSX1, MUC5B, MYH11, MYH7, MYH9, MYLK, MYO5A, NAA10, NDUFB11, NECTIN1, NECTIN4, NF1, NF2, NFKB2, NFKBIA, NHP2, NIPAL4, NKX2-1, NLRP1, NME1, NOG, NOP10, NOTCH1, NOTCH3, NRAS, NSDHL, NT5E, NTRK1, OCA2, OFD1, OSMR, P3H1, PARN, PAX3, PAX9, PDGFRB, PEX1, PEX7, PHGDH, PHYH, PIGA, PIGL, PIK3R1, PKD2, PKP1, PLCD1, PLEC, PLIN1, PLOD1, PLOD2, PLOD3, PLP1, PNPLA1, POC1A, POLD1, POLH, POLR3A, POMP, PORCN, POT1, PPARG, PPIB, PPOX, PRDM5, PRKAR1A, PRKD1, PRKG1, PSAT1, PTCH1, PTCH2, PTDSS1, PTEN, PTH1R, PTPN11, PTPN14, PYCR1, RAB27A, RAF1, RASA1, RBPJ, RECQL4, RHBDF2, RIN2, RIPK4, RIT1, RNF113A, ROGDI, RPL21, RSPO1, RSPO4, RTEL1, RYR1, SATB2, SERPINB7, SERPING1, SERPINH1, SETBP1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SHH, SHOC2, SKI, SLC24A5, SLC26A2, SLC27A4, SLC2A10, SLC30A2, SLC38A8, SLC39A13, SLC39A4, SLC45A2, SLURP1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAD1, SMARCB1, SMARCC2, SMARCE1, SMOC2, SMS, SNAI2, SNAP29, SNRPE, SOS1, SOS2, SOX10, SOX11, SOX18, SOX4, SP7, SPINK5, SPRED1, SQSTM1, SRD5A3, SREBF1, SSPN, ST14, STIM1, STS, SUFU, SULT2B1, SUMF1, TAB2, TALDO1, TAT, TBC1D24, TBC1D4, TBX3, TERT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGM1, TGM5, TINF2, TNFRSF11A, TNFRSF1A, TNXB, TP53, TP63, TRAF6, TREM2, TRPS1, TRPV3, TSC1, TSC2, TSPEAR, TTN, TWIST2, TYMP, TYMS, TYR, TYROBP, TYRP1, UBR1, UPF3B, UROD, UROS, USB1, VCAN, VHL, VIPAS39, VPS33B, WDR19, WDR35, WNK1, WNT10A, WNT10B, WNT7A, WRAP53, WRN, XPA, XPC, XRCC3, XYLT1, ZMPSTE24, ZNF469, ZNF750

DYSKERATOSIS CONGENITA: 15 genes – Delivery time: 3-4 weeks

AK2, CTC1, DKC1, GRHL2, LIG4, NHP2, NOP10, PARN, POT1, RTEL1, TERT, TINF2, TYMS, USB1, WRAP53

ECTODERMAL DYSPLASIA: 110 genes – Delivery time: 3-4 weeks

ABCC9, AIRE, APCDD1, AR, AXIN2, BCS1L, BRAF, CDH3, CDSN, COG6, COL11A1, CREBBP, CTSC, CTSK, DKC1, DLX3, DLX5, DOCK8, DSC2, DSG4, DSP, EDA, EDA2R, EDAR, EDARADD, ERCC2, ERCC3, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, FZD6, GATA3, GJA1, GJB2, GJB6, GRHL2, HOXC13, HR, HRAS, IFT122, IFT43, IKBKG, INSR, IRF6, JUP, KRAS, KRT1, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LIPH, LPAR6, LRP6, LTBP3, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, NLRP1, NME1, NOP10, NTRK1, OFD1, PAX9, PIGL, PKP1, PORCN, PRKD1, RECQL4, RHBDF2, RSPO4, SATB2, SHH, SHOC2, SMARCAD1, SMOC2, SNRPE, TBX3, TERT, TINF2, TP63, TRAF6, TRPS1, TSPEAR, TWIST2, UBR1, WDR19, WDR35, WNT10A, WNT10B, WNT7A

EHLERS-DANLOS SYNDROME: 61 genes – Delivery time: 3-4 weeks

ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

EPIDERMOLYSIS BULLOSA: 31 genes – Delivery time: 3-4 weeks

ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5

HEREDITARY HEMORRHAGIC TELANGIECTASIA: 10 genes – Delivery time: 3-4 weeks

ACVRL1, ADAM17, BMPR1A, BMPR2, ENG, EPHB4, GDF2, PTPN14, RASA1, SMAD4

HERMANSKY-PUDLAK SYNDROME: 28 genes – Delivery time: 3-4 weeks

ABCA3, AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DKC1, DTNBP1, ELMOD2, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, NKX2-1, OCA2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC45A2, TERT, TINF2, TYR, TYRP1

HIPER-IgE SYNDROME (HYPERIMMUNOGLOBULINEMIA E): 9 genes – Delivery time: 3-4 weeks

CARD11, DOCK8, DSG1, IL6R, IL6ST, PGM3, SPINK5, STAT3, TYK2

HYPERKERATOSIS: 73 genes – Delivery time: 3-4 weeks

AAGAB, ABCA12, ALOX12B, ALOXE3, AP1S1, AQP5, BRAF, CAST, CSTA, CTSC, CYP4F22, DSG1, DSG4, DSP, ELOVL4, ENPP1, ERCC2, EXPH5, FKBP14, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, INSR, JUP, KANK2, KDSR, KITLG, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT83, KRT9, LIPN, LOR, MAP2K1, MAP2K2, MBTPS2, NECTIN1, NECTIN4, NIPAL4, PDGFRB, PKP1, PLEC, PNPLA1, PTEN, RHBDF2, RSPO1, SERPINB7, SLC27A4, SLURP1, SMARCAD1, SNAP29, SREBF1, ST14, SULT2B1, TAT, TERT, TGM1, TP63, TRPV3, USB1, VPS33B, WNT10A, ZMPSTE24

HYPERLAXITY AND ASSOCIATED DISORDERS: 109 genes – Delivery time: 3-4 weeks

ABCC6, ACTA2, ADAMTS10, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BRAF, C1R, C1S, CANT1, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, CST3, DLG4, DSE, EFEMP2, ELN, EXOC6B, FBLN5, FBN1, FBN2, FGD1, FGFR3, FKBP10, FKBP14, FLNA, FLNB, FMR1, FOXE3, GALNS, GORAB, HRAS, IFITM5, IMPAD1, KDM6A, KIF22, KMT2D, KRAS, LOX, LTBP2, LTBP4, LZTR1, MAP2K1, MAP2K2, MED12, MYH11, MYH7, MYLK, NOTCH1, NOTCH3, NRAS, P3H1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PRKG1, PTPN11, PYCR1, RAF1, RIN2, RIT1, RYR1, SERPINH1, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SOS1, SOS2, SP7, SSPN, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TRPS1, TTN, TYMP, VCAN, XYLT1, ZNF469

HYPOTRICOSIS/ WOOLLY HAIR: 9 genes – Delivery time: 3-4 weeks

APCDD1, CDSN, DSG4, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE

ICHTHYOSIS: 60 genes – Delivery time: 3-4 weeks

ABCA12, ABHD5, ALDH3A2, ALG8, ALOX12B, ALOXE3, AP1S1, ARSE, CDSN, CERS3, CHKB, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GTF2H5, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RIN2, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TGM1, TGM5, VIPAS39, VPS33B

NEUROFIBROMATOSIS / SCHWANNOMATOSIS: 16 genes – Delivery time: 3-4 weeks

CABIN1, CCND1, COQ6, KIT, KITLG, LZTR1, NF1, NF2, PRKAR1A, PTPN11, RAF1, SMARCB1, SPRED1, TSC1, TSC2, VHL

PACHYONYCHIA CONGENITA: 7 genes – Delivery time: 3-4 weeks

AAGAB, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3

PALMOPLANTAR KERATODERMA: 34 genes – Delivery time: 3-4 weeks

AAGAB, AQP5, CAST, CRYL1, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, LOR, MBTPS2, PKP1, POMP, RHBDF2, RSPO1, SERPINB7, SLURP1, SMARCAD1, SNAP29, TAT, TRPV3, VPS33B, WNT10A

PHAKOMATOSIS: 27 genes – Delivery time: 3-4 weeks

APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN

PROGERIA AND PROGEROID SYNDROMES: 44 genes – Delivery time: 3-4 weeks

AGPAT2, AKT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BLM, BSCL2, CAV1, CAVIN1, CIDEC, COL3A1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, GJA1, GORAB, INSR, KCNJ6, LMNA, LMNB2, MMP2, NAA10, PDGFRB, PIK3R1, PLIN1, POLD1, PPARG, PYCR1, RECQL4, RNF113A, SQSTM1, TBC1D4, TNFRSF11A, TREM2, TYROBP, WNK1, WRN, ZMPSTE24

TRICHOTHIODYSTROPHY: 5 genes – Delivery time: 3-4 weeks

ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A

WAARDENBURG SYNDROME: 8 genes – Delivery time: 3-4 weeks

EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR

XERODERMA PIGMENTOSUM: 10 genes – Delivery time: 3-4 weeks

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC

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