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Oncologic and neoplastic diseases (cancer)

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

BONE AND SOFT TISSUE CANCER (SARCOMA AND OSTEOSARCOMA): 33 genes – Delivery time: 3-4 weeks

APC, BLM, CDKN1C, CDKN2A, DICER1, EPCAM, EXT1, EXT2, FH, FN1, HRAS, KIT, MLH1, MSH2, MSH6, NBN, NF1, PDGFRA, PMS2, PRKAR1A, PTCH1, PTCH2, RB1, RECQL4, SDHA, SDHB, SDHC, SDHD, SUFU, TP53, TSC1, TSC2, WRN

BRAIN AND CENTRAL NERVOUS SYSTEM CANCER: 41 genes – Delivery time: 3-4 weeks

AIP, ALK, APC, ATM, BAP1, BARD1, BRCA2, CDKN1B, CDKN2A, DICER1, EPCAM, EZH2, GPC3, HRAS, KIF1B, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RB1, SETD2, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL, WRN

BREAST AND OVARIAN CANCER: 51 genes – Delivery time: 3-4 weeks

APC, ATM, ATR, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CYP17A1, EPCAM, ERCC2, ERCC4, FANCC, FANCD2, FANCI, FANCM, HOXB13, MEN1, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS1, PMS2, PPM1D, PSMC3IP, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RECQL, SLX4, SMARCA4, STK11, TNFRSF13B, TP53, WRN, XRCC2, XRCC3

COLORECTAL CANCER, HEREDITARY: 41 genes – Delivery time: 3-4 weeks

AKT1, APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BUB1, CDC73, CDH1, CHEK2, CTNNA1, DIS3L2, EPCAM, FAN1, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PIF1, PIK3CA, PMS1, PMS2, POLD1, POLE, PTEN, RBL1, SCG5, SMAD4, STK11, TELO2, TGFBR2, TP53, TSC1, TSC2

COWDEN DISEASE / COWDEN-LIKE: 9 genes – Delivery time: 3-4 weeks

AKT1, BMPR1A, KLLN, PIK3CA, PTEN, SDHB, SDHC, SDHD, 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

ENDOCRINE CANCER, HEREDITARY: 31 genes – Delivery time: 3-4 weeks

AIP, APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, FH, HABP2, KIF1B, MAX, MEN1, MET, NF1, NTRK1, PHOX2B, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, TMEM127, TP53, TSC1, TSC2, VHL, WRN

ENDOMETRIAL CANCER, HEREDITARY: 13 genes – Delivery time: 3-4 weeks

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, STK11, TP53

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

GASTROINTESTINAL CANCER, HEREDITARY: 52 genes – Delivery time: 3-4 weeks

APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CDH1, CDKN1B, CDKN2A, CHEK2, CTNNA1, EPCAM, FANCC, GALNT12, GREM1, KIT, MAP3K6, MEN1, MLH1, MLH3, MSH2, MSH3, MSH6, MSR1, MUTYH, NF1, NTHL1, PALB2, PC, PDGFRA, PMS1, PMS2, POLD1, POLE, PTEN, RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WRN

HEREDITARY CANCER, COMPREHENSIVE: 282 genes – Delivery time: 3-4 weeks

ABRAXAS1, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, APOA1, APOA2, AR, ARID1A, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BTK, BUB1, BUB1B, CABIN1, CARD11, CASP10, CASP8, CASR, CBL, CCND1, CD27, CD40LG, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CEBPA, CEP57, CHEK2, COQ6, CREBBP, CSF3R, CST3, CTC1, CTLA4, CTNNA1, CTPS1, CTRC, CYLD, DDB2, DICER1, DIS3L2, DKC1, DLST, DOCK8, EGFR, EGLN1, ELANE, EP300, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ETV6, EXO1, EXT1, EXT2, EZH2, FADD, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FERMT1, FGA, FH, FLCN, FN1, FOXE1, G6PC3, GALNT12, GATA2, GCM2, GDNF, GFI1, GPC3, GPC4, GPR101, GREM1, GSN, HABP2, HAX1, HNF1A, HNF1B, HOXA11, HOXB13, HRAS, IDH1, IKZF1, IL1B, IL1RN, ITK, JAGN1, JAK2, KDM1A, KIF1B, KIT, KITLG, KMT2D, KRAS, LIG4, LYZ, LZTR1, MAGT1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MDH2, MECOM, MEN1, MET, MINPP1, MITF, MLH1, MLH3, MNX1, MPL, MRE11, MRTFA, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NDUFA13, NF1, NF2, NFIX, NHP2, NOP10, NPAT, NPM1, NRAS, NSD1, NSUN2, NTHL1, NTRK1, NUDT1, OGG1, PALB2, PALLD, PARN, PAX5, PAX6, PC, PDE11A, PDE8B, PDGFRA, PGM3, PHOX2B, PIK3CA, PIK3CD, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRCC, PRF1, PRKAR1A, PRSS1, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAF1, RASA2, RASGRP1, RB1, RBM8A, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNASEL, RNF139, RPL11, RPL35A, RPS24, RRAS, RTEL1, RUNX1, SAMD9, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SH2B3, SH2D1A, SHOC2, SLC45A2, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPINK1, SPRED1, SRP72, STAT3, STK11, SUFU, TERT, TET2, TGFBR1, TGFBR2, THPO, TINF2, TMEM127, TNFRSF13B, TNFRSF9, TP53, TRIP13, TSC1, TSC2, TTR, TYR, UBE2T, UNC13D, USB1, VHL, VPS45, WAS, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, XRCC3

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

LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE (ALPS): 38 genes – Delivery time: 3-4 weeks

ADA2, AICDA, CARD11, CASP10, CASP8, CD40LG, CTLA4, DEF6, FADD, FAS, FASLG, IL2RA, ITK, KRAS, LRBA, LYST, MAGT1, MYO5A, NRAS, PIK3CD, PIK3R1, PRF1, PRKCD, RAB27A, RASGRP1, RECQL4, SH2D1A, STAT3, STK4, STX11, STXBP2, TET2, TNFAIP3, TNFRSF9, TPP2, UNC13D, WAS, XIAP

MEDULLOBLASTOMA: 14 genes – Delivery time: 3-4 weeks

APC, BRCA2, ELP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTCH1, PTCH2, SMARCB1, SUFU, TP53

MELANOMA, HEREDITARY/ SKIN CANCER: 34 genes – Delivery time: 3-4 weeks

BAP1, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CDKN2B, CHEK2, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, MC1R, MITF, MUTYH, NBN, POLE, POLH, POT1, PTCH1, PTEN, RB1, SLC45A2, SUFU, TERT, TP53, TYR, WRN, XPA, XPC, XRCC2, XRCC3

MULTIPLE ENDOCRINE NEOPLASIA: 9 genes – Delivery time: 3-4 weeks

AIP, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET

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

OVARIAN CANCER: 31 genes – Delivery time: 3-4 weeks

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK1, CHEK2, DICER1, EPCAM, FANCA, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS1, PMS2, PTEN, RAD1, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, TP53I3

PANCREATIC CANCER, HEREDITARY: 35 genes – Delivery time: 3-4 weeks

AKT1, APC, ATM, BMPR1A, BRCA1, BRCA2, BUB1B, CASR, CDC73, CDK4, CDKN1B, CDKN2A, CFTR, CHEK2, CTRC, EPCAM, FANCA, FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PALLD, PMS1, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53, TSC1, TSC2, VHL

PEDIATRIC CANCER: 168 genes – Delivery time: 3-4 weeks

ABL1, ABL2, ACVR1, AKT1, ALK, ANKRD26, APC, ARID1A, ARID1B, ASXL1, ATM, ATRX, AXIN2, BAP1, BLM, BMPR1A, BRAF, BUB1B, CALR, CBL, CCND3, CCR5, CDC73, CDK4, CDKN1C, CDKN2A, CDKN2B, CEBPA, CHD7, CIC, CREBBP, CRLF1, CSF1R, CSF3R, CTNNB1, DAXX, DDX3X, DICER1, DIS3L2, DNMT3A, EGFR, EP300, EPCAM, ERBB2, ERBB3, ERBB4, ESR1, ETV6, EXT1, EXT2, EZH2, FAS, FASLG, FBXW7, FGFR2, FGFR3, FH, FLT3, GATA1, GATA2, GATA3, GNA11, GNA13, GNAQ, GPC3, HDAC9, HRAS, ID3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM4C, KDM6A, KDR, KIF1B, KIT, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTOR, MYOD1, NBN, NF1, NF2, NOTCH1, NPM1, NRAS, NSD1, NSD2, NSUN2, NT5C2, PAX5, PDGFRA, PDGFRB, PHF6, PHOX2B, PIK3CA, PIK3R1, PMS2, POT1, PPM1D, PRF1, PRKAR1A, PRPS1, PTCH1, PTCH2, PTEN, PTPN11, RAF1, RASA2, RB1, RECQL4, REST, RET, RIT1, RRAS, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SH2B3, SH2D1A, SHOC2, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMO, SOS1, SOS2, SRP72, STAT3, STAT5B, STK11, SUFU, SUZ12, TCF3, TERT, TET2, TMEM127, TP53, TPMT, TRIP13, TSC1, TSC2, USP7, VHL, WRN, WT1, XIAP, ZMYM3

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

ATRX, CDC73, CDKN1B, DLST, EGLN1, EPAS1, FH, GDNF, HRAS, IDH1, KIF1B, KMT2D, MAX, MDH2, MEN1, MET, NF1, PRKAR1A, RET, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

PITUITARY ADENOMA, FAMILIAL / PROLACTINOMA: 15 genes – Delivery time: 3-4 weeks

AIP, CDH23, CDKN1B, CDKN2A, CDKN2C, GNAS, GPR101, MEN1, POU1F1, PRKAR1A, PRKCA, SDHA, SDHB, SDHC, SDHD

POLYPOSIS, FAMILIAL ADENOMATOUS (FAP) AND POLYPOSIS, JUVENILE: 24 genes – Delivery time: 3-4 weeks

APC, AXIN2, BMPR1A, BRCA1, BRCA2, DIS3L2, ENG, EZH2, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PIK3CA, PMS2, POLD1, POLE, PTEN, SCG5, SMAD4, STK11

PROSTATE CANCER, FAMILIAL: 33 genes – Delivery time: 3-4 weeks

ABRAXAS1, APC, AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCA, FANCD2, FANCM, GEN1, HOXB13, MLH1, MRE11, MSH2, MSH6, MSR1, MUTYH, NBN, PALB2, PMS1, PMS2, PTEN, RAD51C, RAD51D, RNASEL, STK11, TP53

RENAL / URINARY CARNCER, HEREDITARY: 40 genes – Delivery time: 3-4 weeks

BAP1, BUB1B, CDC73, CDKN1C, CEP57, CHEK2, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, HNF1B, HRAS, MET, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PBRM1, PMS1, PMS2, PRCC, PTEN, REST, RNF139, SDHA, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, TP53, TSC1, TSC2, VHL, WT1

SOLID PEDIATRIC CANCER, GENETIC PREDISPOSITION: 106 genes – Delivery time: 3-4 weeks

AIP, ALK, APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRAF, BRCA2, BRIP1, BUB1B, CBL, CDC73, CDKN1C, CEBPA, CREBBP, CTC1, DDB2, DICER1, DIS3L2, DKC1, EP300, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCE, FANCG, FERMT1, FH, FLCN, GATA2, GPC3, GPC4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, NRAS, NSD1, NSUN2, PAX5, PAX6, PHOX2B, PIK3CA, PMS2, POLH, POT1, PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAF1, RASA2, RB1, RECQL4, REST, RET, RIT1, RRAS, RTEL1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, STK11, SUFU, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, USB1, VHL, WRN, WT1, XPA, XPC

THYROID CANCER, HEREDITARY: 17 genes – Delivery time: 3-4 weeks

APC, CDC73, CHEK2, DICER1, FOXE1, HABP2, MEN1, MINPP1, NTRK1, PRKAR1A, PTEN, RET, SDHB, SDHD, SEC23B, TP53, WRN

UTERINE / ENDOMETRIAL CANCER: 27 genes – Delivery time: 3-4 weeks

APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNB1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD51C, SMAD4, STK11, TP53, VHL

WILMS TUMOR: 37 genes – Delivery time: 3-4 weeks

AMER1, ARID1A, ASXL1, BLM, BRCA2, BUB1B, CDC73, CDKN1C, CHD4, COL6A3, CTNNB1, DGCR8, DICER1, DIS3L2, DROSHA, EP300, FBXW7, GPC3, GPC4, HACE1, HDAC4, IGF2, NF1, PALB2, PIK3CA, POU6F2, REST, RLIM, SIX1, SIX2, SMARCA4, TP53, TRIM28, TRIM37, TRIP13, WT1, XPO5

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

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

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