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Hematological diseases

ATYPICAL HEMOLYTIC UREMIC SYNDROME: 35 genes – Delivery time: 3-4 weeks

ADAMTS13, C1S, C2, C3, C3AR1, C4BPA, C8A, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CR1, CR2, DGKE, F12, G6PD, INF2, LMNA, MASP1, MMACHC, PHB, PIGA, PLG, THBD, VWF

BLACKFAN-DIAMOND ANEMIA: 21 genes – Delivery time: 3-4 weeks

EPO, GATA1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, TSR2

COAGULATION AND HEMORRAGIC DISORDERS: 133 genes – Delivery time: 3-4 weeks

ABCG5, ABCG8, ACTN1, ACVRL1, ADAM17, ADAMTS13, ADAMTS2, ANKRD26, ANO6, AP3B1, BLOC1S3, BLOC1S6, BRAF, C1R, CCM2, CD36, CD40LG, CDC42, CHST14, COG6, COL1A2, COL3A1, COL4A1, CTC1, CYCS, DIAPH1, DTNBP1, EFEMP2, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FANCC, FANCD2, FANCE, FERMT3, FGA, FGB, FGG, FLI1, FLNA, GATA1, GBA, GDF2, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HRG, IGFBP7, IL2RG, ITGA2, ITGA2B, ITGB3, JAM3, KDSR, KLKB1, KNG1, KRAS, KRIT1, LMAN1, LYST, LYZ, MAP2K1, MAP2K2, MASTL, MCFD2, MECOM, MPL, MYH9, NBEAL2, NF1, NRAS, P2RX1, P2RY12, PDCD10, PLA2G4A, PLAT, PLAU, PLG, PRKACG, PROC, PROS1, PTPN11, RASGRP2, RBM8A, RIT1, RUNX1, SBDS, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC35A1, SLC37A4, SLC7A7, SMAD4, SOS1, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1

COAGULATION FACTORS, DEFICIENCY: 24 genes – Delivery time: 3-4 weeks

F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, GP1BA, KLKB1, KNG1, LMAN1, MCFD2, PLG, SERPINE1, SERPINF2, VKORC1, VWF

CONGENITAL DYSERYTHROPOIETIC ANEMIA: 8 genes – Delivery time: 3-4 weeks

ALAS2, C15orf41, CDAN1, GATA1, KIF23, KLF1, LPIN2, SEC23B

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

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

ERYTHROCYTOSIS, FAMILIAL: 27 genes – Delivery time: 3-4 weeks

ACVRL1, ANK1, BPGM, CALR, CYB5R3, EGLN1, ENG, EPAS1, EPB41, EPB42, EPO, EPOR, GDF2, HBA1, HBA2, HBB, HIF1A, JAK2, PIEZO1, PKLR, RHAG, SH2B3, SLC4A1, SPTA1, SPTB, TET2, VHL

FANCONI ANEMIA: 26 genes – Delivery time: 3-4 weeks

ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CXCR4, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2

GLOBAL HEREDITARY ANAEMIAS: 268 genes – Delivery time: 3-4 weeks

ABCB6, ABCB7, ABCG5, ABCG8, ACTB, ACVRL1, ADA, ADA2, ADAMTS13, ADAR, AFF2, AIRE, AK1, AK2, ALAS2, ALDOA, AMN, ANK1, ANKRD11, ANKRD26, AP1S2, AP3B1, ATM, ATR, ATRX, BLM, BLOC1S3, BLOC1S6, BPGM, BRAF, BRCA1, BRCA2, BRIP1, C15orf41, C3, C3AR1, CASK, CASP10, CASP8, CBL, CD27, CD3G, CD40LG, CD46, CD59, CDAN1, CDKN2A, CEBPA, CFB, CFH, CFHR5, CFI, CLCN7, CLPB, COG6, COL4A1, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CUBN, CXCR4, CYB5R3, DHFR, DKC1, DNASE2, DTNBP1, ELANE, ENG, EPB41, EPB42, EPCAM, EPO, ERCC4, ERCC6L2, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FECH, FMR1, G6PC3, G6PD, GATA1, GATA2, GBA, GCLC, GDF2, GFI1, GIF, GLRX5, GP1BA, GPI, GPX1, GSR, GSS, GYPC, HAX1, HBA1, HBA2, HBB, HBD, HFE, HK1, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSPA9, HUWE1, IFNGR2, IKZF1, ITGA2B, ITK, JAGN1, KDM5C, KIF23, KLF1, KRAS, LAMTOR2, LMBRD1, LPIN2, LYST, MAGT1, MAP2K1, MAP2K2, MECOM, MLH1, MMACHC, MMADHC, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, NF1, NHP2, NHS, NOP10, NRAS, NT5C3A, PALB2, PARN, PAX5, PC, PDHA1, PDHX, PFKL, PFKM, PGK1, PGM3, PHF8, PIEZO1, PKLR, PMS2, PORCN, POT1, PQBP1, PRF1, PRKACG, PRPS1, PTPN11, PUS1, RAB27A, RAB40AL, RAC2, RAD51, RAD51C, RBM8A, RECQL4, REN, RHAG, RIT1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SBDS, SEC23B, SH2D1A, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC37A4, SLC46A1, SLC4A1, SLC9A6, SLCO1B1, SLCO1B3, SLX4, SMS, SOS1, SPTA1, SPTB, SRP72, STAT3, STOM, STX11, STXBP2, TBXAS1, TCN2, TERT, TF, THBD, THPO, TIMM8A, TINF2, TMPRSS6, TP53, TPI1, TRNT1, TSR2, TUBB1, UBE2A, UBE2T, UGT1A1, UGT1A6, UGT1A7, UMPS, UNC13D, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, XK, XRCC2, YARS2, ZCCHC8, ZDHHC9

HEMATOLOGICAL DISORDERS: 474 genes – Delivery time: 3-4 weeks

ABCA3, ABCB6, ABCB7, ABCG5, ABCG8, ACBD5, ACP5, ACTA2, ACTB, ACTN1, ACVRL1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS2, ADAR, AFF2, AIRE, AK1, AK2, ALAS2, ALDOA, AMN, ANK1, ANKRD11, ANKRD26, ANO6, ANTXR1, AP1S2, AP3B1, AP3D1, ASXL1, ATM, ATR, ATRX, BCL2, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BMPR1A, BMPR2, BPGM, BRAF, BRCA1, BRCA2, BRIP1, BTK, C15orf41, C1R, C1S, C2, C3, C3AR1, C4BPA, C8A, C9, CALR, CASK, CASP10, CASP8, CAV1, CBL, CBS, CCBE1, CCM2, CD19, CD27, CD36, CD3G, CD40LG, CD46, CD55, CD59, CD81, CDAN1, CDC42, CDKN2A, CEBPA, CELSR1, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CHD2, CHEK2, CHST14, CLCN7, CLPB, COG6, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CR1, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CUBN, CXCR4, CYB5R3, CYCS, DGKE, DHFR, DIAPH1, DKC1, DNASE2, DNMT3A, DOCK6, DTNBP1, EFEMP2, EGLN1, EGR2, ELANE, ELMOD2, ENG, EPAS1, EPB41, EPB42, EPCAM, EPHB4, EPO, EPOR, ERCC4, ERCC6L2, ETV6, EZH2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBN1, FBN2, FBXW7, FECH, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FLT4, FMR1, FOXC2, G6PC3, G6PD, GATA1, GATA2, GATA5, GBA, GCLC, GDF2, GFI1, GFI1B, GGCX, GIF, GJA1, GJC2, GLMN, GLRX5, GNAQ, GNE, GP1BA, GP1BB, GP6, GP9, GPI, GPR143, GPX1, GRHL2, GSR, GSS, GUCY1A1, GYPC, HAX1, HBA1, HBA2, HBB, HBD, HFE, HGF, HIF1A, HK1, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HRG, HSPA9, HUWE1, IDH1, IDH2, IFNGR2, IGFBP7, IKZF1, IKZF3, IL2RG, INF2, IRF4, ITGA2, ITGA2B, ITGB3, ITK, JAGN1, JAK2, JAM3, KCNK3, KDM5C, KDR, KDSR, KIF11, KIF23, KIT, KLF1, KLKB1, KNG1, KRAS, KRIT1, LAMTOR2, LIG4, LMAN1, LMBRD1, LMNA, LPIN2, LYST, LYZ, MAGT1, MAP2K1, MAP2K2, MASP1, MASTL, MCFD2, MECOM, MED12, MLH1, MMACHC, MMADHC, MPL, MRTFA, MSH2, MSH6, MTHFD1, MTR, MYD88, MYH11, MYH9, MYLK, MYO5A, NBEA, NBEAL2, NBN, NF1, NHP2, NHS, NKX2-1, NKX2-5, NOP10, NOTCH1, NPM1, NRAS, NT5C3A, OCA2, ORAI1, P2RX1, P2RY1, P2RY12, PALB2, PARN, PAX5, PC, PDCD10, PDHA1, PDHX, PFKL, PFKM, PGK1, PGM3, PHB, PHF8, PIEZO1, PIK3CA, PKLR, PLA2G4A, PLAT, PLAU, PLG, PLOD1, PMS2, PORCN, POT1, PQBP1, PRF1, PRKACG, PRKG1, PROC, PROS1, PRPS1, PTEN, PTGS1, PTPN11, PTPN14, PTPRJ, PUS1, RAB27A, RAB40AL, RAC2, RAD21, RAD51, RAD51C, RASA1, RASGRP2, RBM8A, RECQL4, REN, RHAG, RHCE, RHD, RIT1, RNF168, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SEC23B, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SF3B1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SH2B3, SH2D1A, SKI, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC2A10, SLC35A1, SLC37A4, SLC45A2, SLC46A1, SLC4A1, SLC7A7, SLC9A6, SLCO1B1, SLCO1B3, SLX4, SMAD3, SMAD4, SMAD6, SMC1A, SMC3, SMS, SOS1, SOX18, SPTA1, SPTB, SRC, SRP72, STAMBP, STAT3, STIM1, STOM, STX11, STXBP2, TBXA2R, TBXAS1, TCN2, TEK, TERT, TET2, TF, TGFB2, TGFBR1, TGFBR2, THBD, THPO, TIMM8A, TINF2, TMPRSS6, TP53, TPI1, TRNT1, TSR2, TUBB1, TYR, TYRP1, UBE2A, UBE2T, UGT1A1, UGT1A6, UGT1A7, UMPS, UNC13D, USB1, VEGFC, VHL, VIPAS39, VKORC1, VPS13B, VPS33B, VPS45, VWF, WAS, WIPF1, WRAP53, WT1, XIAP, XK, XPO1, XRCC2, YARS2, ZCCHC8, ZDHHC9

HEREDITARY HEMOLYTIC ANEMIA: 54 genes – Delivery time: 3-4 weeks

ABCB6, ABCG5, ABCG8, ADA, AK1, ALAS2, ALDOA, ANK1, BPGM, C15orf41, CD59, CDAN1, COL4A1, CYB5R3, EPB41, EPB42, FANCA, FANCC, FANCG, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, GYPC, HBB, HBD, HK1, HMOX1, KIF23, KLF1, LPIN2, NT5C3A, PFKL, PFKM, PGK1, PIEZO1, PKLR, RHAG, SEC23B, SLC2A1, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, STOM, TPI1, UGT1A1, UGT1A6, UGT1A7, XK

HEREDITARY STOMATOCYTOSIS: 7 genes – Delivery time: 3-4 weeks

ABCB6, PIEZO1, RHAG, RHCE, RHD, SLC2A1, SLC4A1

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

LEUKEMIA AND MYELODYSPLASTIC SYNDROMES: 81 genes – Delivery time: 3-4 weeks

ANKRD26, ASXL1, ATM, BCL2, BLM, BRAF, BRCA1, BRCA2, BRIP1, BTK, CBL, CDKN2A, CEBPA, CHD2, CHEK2, CREBBP, DKC1, DNMT3A, EGR2, ELANE, EPCAM, ERCC6L2, ETV6, EZH2, FANCA, FBXW7, FLT3, G6PC3, GATA2, GFI1, HAX1, HRAS, IDH1, IDH2, IKZF1, IKZF3, IRF4, JAK2, KIT, KRAS, MAP2K1, MAP2K2, MECOM, MLH1, MSH2, MSH6, MYD88, NBN, NF1, NOTCH1, NPM1, NRAS, PALB2, PAX5, PDGFRB, PHF6, PMS2, POT1, PTPN11, RAD21, RIT1, RPS15, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SF3B1, SMC1A, SMC3, SOS1, SRP72, SRSF2, STAG2, TERT, TET2, TINF2, TP53, U2AF1, WT1, XPO1

LYMPHEDEMA AND LYMPHATIC MALFORMATIONS: 39 genes – Delivery time: 3-4 weeks

AP3B1, BLOC1S3, BLOC1S6, CCBE1, CELSR1, DTNBP1, EPHB4, FAT4, FLT4, FOXC2, GATA2, GBA, GJA1, GJC2, GP1BA, GP1BB, GP9, HGF, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KIF11, NBEAL2, P2RY12, PIEZO1, PIK3CA, PTPN14, RASA1, RASGRP2, RUNX1, SOX18, TBXA2R, THPO, VEGFC, WIPF1

MEGALOBLASTIC ANEMIA: 13 genes – Delivery time: 3-4 weeks

AMN, CUBN, DHFR, GIF, LMBRD1, MMACHC, MMADHC, MTHFD1, MTR, SLC19A1, SLC19A2, TCN2, UMPS

SIDEROBLASTIC ANEMIA: 9 genes – Delivery time: 3-4 weeks

ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

THROMBOCYTOPENIA AND PLATELET DEFECTS: 135 genes – Delivery time: 3-4 weeks

ABCG5, ABCG8, ACBD5, ACP5, ACTB, ACTN1, ADA, ADAMTS13, ANKRD11, ANKRD26, ANO6, AP3B1, AP3D1, BLOC1S3, BLOC1S6, BRCA2, C3, C3AR1, CASP10, CASP8, CD19, CD36, CD40LG, CD46, CD81, CDC42, CFB, CFH, CFHR4, CFHR5, CFI, CLCN7, COG6, CTC1, CTLA4, CYCS, DGKE, DHFR, DIAPH1, DKC1, DNASE2, DTNBP1, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FAS, FASLG, FERMT3, FLI1, FLNA, G6PC3, GATA1, GATA2, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF1, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KRAS, LIG4, LYST, MASTL, MECOM, MPL, MRTFA, MTHFD1, MYH9, NBEA, NBEAL2, NBN, NHP2, NOP10, NRAS, ORAI1, P2RX1, P2RY1, P2RY12, PLA2G4A, PLAU, PRF1, PRKACG, PTGS1, PTPN11, PTPRJ, RAB27A, RASGRP2, RBM8A, RPS19, RUNX1, SAMD9, SBDS, SH2D1A, SLC19A2, SLC37A4, SLC46A1, SLX4, SRC, STAT3, STIM1, STX11, STXBP2, TBXA2R, TBXAS1, TERT, THBD, THPO, TINF2, TUBB1, UBE2T, UNC13D, VIPAS39, VPS33B, VPS45, VWF, WAS, WIPF1

VASCULAR MALFORMATIONS: 44 genes – Delivery time: 3-4 weeks

ACTA2, ACVRL1, ANTXR1, BMPR1A, BMPR2, CAV1, CBS, CCM2, COL1A1, COL3A1, COL5A1, COL5A2, DOCK6, ENG, EPHB4, FBN1, FBN2, FLNA, GDF2, GLMN, GNAQ, KCNK3, KDR, KRIT1, MED12, MYH11, MYLK, NOTCH1, PDCD10, PIK3CA, PLOD1, PRKG1, PTEN, RASA1, SKI, SLC2A10, SMAD3, SMAD4, SOX18, STAMBP, TEK, TGFB2, TGFBR1, TGFBR2

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