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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

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

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

CONGENITAL ICHTHIOSIFORM 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

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

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

CONNECTIVOPATHIES (CONNECTIVE TISSUE DISEASES): 190 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, 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, EFEMP2, EHHADH, ELN, EPHX1, 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, ZNF469

ECTODERMIC DYSPLASIAS: 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

GLOBAL DERMATOLOGICAL DISEASES: 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

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

HYPERIMMUNOGLOBULINEMIA SYNDROME (HYPER IgE): 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

HYPOTRICHOSIS/ WOOLY 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

JOINT HYPERMOBILITY 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

LAX SKIN: 14 genes – Delivery time: 3-4 weeks

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

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

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

PHOMATOSIS: 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

TRICOTHIODYSTROPHY: 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 PIGMENTOUS: 10 genes – Delivery time: 3-4 weeks

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

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