Test 140.
Syndromic and nonsyndromic diseases with dermatological symptoms

Mutations in panel of 423 genes


AAGAB, ABCA12, ABCA3, ABCB6, ABCC6, ABCC9, ABCD4, ABHD5, ACD, ACTA2, ACVRL1, ADA2, ADAM10, ADAM17, ADAMTS2, ADAMTS3, ADAMTSL2, ADAR, AEBP1, AGPAT2, AK2, AKT1, ALAS2, ALDH18A1, ALDH3A2, ALOX12B, ALOXE3, ANAPC1, ANGPT1, ANTXR1, AP1S1, AP3B1, AP3D1, APCDD1, AQP5, AR, ARHGAP31, ARSE, ATM, ATP2A2, ATP2C1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATR, AXIN2, B3GALT6, B4GALT7, BANF1, BAP1, BCS1L, BGN, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BSCL2, C10ORF11, C1R, C1S, CARD14, CASP14, CAST, CAV1, CAVIN1, CBL, CBS, CCBE1, CCM2, CD151, CDAN1, CDH3, CDK4, CDKN2A, CDSN, CELSR1, CERS3, CHST14, CHST3, CHST8, CLDN1, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL7A1, CREBBP, CSTA, CTC1, CTSC, CYBB, CYP4F22, DCLRE1C, DCT, DDB2, DHX30, DHX40, DKC1, DLL4, DOCK6, DOCK8, DSC2, DSC3, DSE, DSG1, DSG2, DSG4, DSP, DST, DTNBP1, EBP, ECM1, EDA, EDA2R, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, ELN, ELOVL4, ENG, ENPP1, EOGT, EPG5, EPHB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXPH5, F12, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT4, FBLN5, FBN1, FBN2, FDPS, FERMT1, FGF10, FGF23, FGFR2, FGFR3, FKBP14, FLG, FLG2, FLNA, FLT4, FOXC2, GALNT3, GATA2, GDF2, GJA1, GJB2, GJB3, GJB4, GJB6, GJC2, GLMN, GNAQ, GNAS, GORAB, GPR143, GRHL2, GRIP1, GTF2E2, GTF2H5, GUCY1A1, HOXC13, HPS1, HPS1*, HPS3, HPS4, HPS5, HPS6, HR, HRAS, IFT122, IKBKG, IL1RN, IL36RN, ITGA3, ITGA6, ITGB4, JAK2, JUP, KCNJ6, KCTD1, KDF1, KDR, KDSR, KIF11, KIT, KITLG, KLHL24, KNG1, KRAS, KREMEN1, KRIT1, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT25, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LAMA3, LAMB3, LAMC2, LEMD3, LIG4, LIPH, LIPN, LMNA, LOR, LORICRIN, LPAR6, LRMDA, LRP6, LSS, LTBP4, LYST, LZTR1, MAP2K1, MAP2K2, MBTPS2, MC1R, MITF, MLPH, MMP1, MPLKIP, MSX1, MVD, MVK, MYO5A, NAF1, NECTIN1, NECTIN4, NF1, NF2, NFKB2, NFKBIA, NHP2, NIPAL4, NOP10, NOTCH1, NPM1, NRAS, OCA2, OFD1, OSMR, PALB2, PARN, PARN*, PAX3, PAX9, PDCD10, PDGFRB, PERP, PEX7, PHYH, PIEZO1, PIK3CA, PIK3R1, PIK3R2, PKP1, PLEC, PLG, PLIN1, PLOD1, PMVK, PNPLA1, POFUT1, POGLUT1, POLD1, POLH, POLR3A, POMP, PORCN, POT1, PPARG, PRDM5, PRKAR1A, PRKD1, PSENEN, PSMB8, PTCH1, PTEN, PTPN11, PVRL1, PVRL4, PYCR1, RAB27A, RAD51C, RAF1, RAG1, RAG2, RASA1, RBPJ, RECQL4, RHBDF2, RIN2, RMRP, RNF213, RPL21, RSPO4, RTEL1, SAMD9, SAMHD1, SASH1, SCN9A, SDR9C7, SERPINB7, SERPING1, SFTPB, SFTPC, SHOC2, SLC24A5, SLC25A24, SLC27A4, SLC29A3, SLC2A10, SLC30A2, SLC38A8, SLC39A13, SLC39A4, SLC45A2, SLC6A19, SLURP1, SLX4, SMAD3, SMAD4, SMARCAD1, SMARCB1, SNAI2, SNAP29, SNRPE, SOS1, SOX10, SOX18, SPINK5, SPRED1, ST14, ST3GAL5, STAT3, STK11, STS, SUFU, SULT2B1, SUMF1, TEK, TERC, TERT, TGFB2, TGFBR1, TGFBR2, TGM1, TGM5, THSD1, TINF2, TMEM173, TNXB, TOP3A, TP53, TP63, TREX1, TRPS1, TRPV3, TSC1, TSC2, TSPEAR, TWIST2, TYR, TYRP1, UBR1, USB1, UVSSA, VEGFC, VPS33B, WDR35, WNT10A, WNT10B, WNT7A, WRAP53, WRN, XPA, XPC, YY1AP1, ZMPSTE24, ZNF469
Order Online:
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Test Price:
1400 BGN
Deadline:
50 working days