Det targeterede NGS panel indeholder 118 cancer-relaterede gener og inkluderer alle 16 delpaneler plus andre gener.
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2020-10-01 til 2022-08-17
Opdatering
2021-11-03: GREM1 fjernet
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Gyldighed 2020-10-01 til 2021-10-01
Mammacancer v2
BRCA1, BRCA2, PALB2, PTEN, STK11,TP53
Ovariecancer v3
BRCA1, BRCA2, BRIP1, EPCAM**, MLH1, MSH2, MSH6, PMS2*, RAD51C, RAD51D, STK11
Andre mamma-/ovariecancergener v3
ABRAXAS1, ATM, BARD1, CHEK2, FANCM, GEN1, MRE11, NBN, PIK3CA, PPM1D, RINT1, XRCC2
Kolorektalcancer og Polypose, v1
APC, AXIN2, BMPR1A, EPCAM**, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS1, PMS2*, POLD1, POLE, PTEN, RNF43, SCG5**, SMAD4, STK11
Lynch syndrom v2
EPCAM**, MLH1, MSH2, MSH6, PMS2*
FAP og MAP v1
APC, MUTYH
Multipel Endokrin Neoplasi v3
AIP, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GNA11, GNAS, MEN1, NTRK1, PRKAR1A, RET, SDHB, SDHC, SDHD, VHL
Neurofibromatose v1
NF1, NF2, SPRED1
Nyrecancer v3
BAP1, CDKN2B, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, VHL
Gorlin syndrom v3
PTCH1, PTCH2, SUFU
Li-Fraumeni syndrom v1
TP53
Peutz-Jegher syndrom v1
STK11
HDGC, Hereditary Diffuse Gastric Cancer v2
CDH1, CTNNA1
Malignt melanom v1
ACD, BAP1, BRCA2, CDK4, CDKN2A, MITF, POLE, POT1, TERF2IP, TERT
Pancreascancer v1
BRCA1, BRCA2, CDKN2A, EPCAM**, MLH1, MSH2, MSH6, PALB2, PMS2*, PRSS1, STK11
Schwannomatose v1
SMARCB1, LZTR1, NF1, NF2
* MLPA indgår i analysen ** Kun CNV analyse
Gyldighed 2017-01-01 til 2020-10-01
NGS panelet indeholder 107 cancer-relaterede gener, inklusive alle delpaneler.
Delpaneler:
BRCA BRCA1, BRCA2
Mammacancer BRCA1, BRCA2, CDH1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
Ovariecancer BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D, STK11
Andre mamma-/ovariecancergener ATM, BARD1, CHEK2, FAM175A, FANCM, GEN1, MRE11A, NBN, PIK3CA, PPM1D, RINT1, XRCC2
CRC disposition APC, AXIN2, BMPR1A, EPCAM, GREM1-enhancer, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11
Lynch syndrom EPCAM, MLH1 , MLH3, MSH2 , MSH3, MSH6, PMS2
FAP og MAP APC, MUTYH
Polypose BMPR1A, ENG, PTCH1, PTEN, SMAD4, STK11, GREM1-enhancer
Multipel Endokrin Neoplasi AIP, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GNA11, GNAS, MEN1, NTRK1, PRKAR1A, RET, SDHB, SDHC, SDHD, VHL
Neurofibromatose NF1, NF2, SPRED1
Nyrecancer FH, FLCN, MET, VHL
Gorlin syndrom PTCH1, PTCH2, SUFU
Li-Fraumeni syndrom TP53
Peutz-Jegher syndrom STK11
Gyldighed: 2014-10-01 til 2016-12-31
Gyldighed: 2013-09-01 til 2014-10-01
Genpanelet indeholder 106 gener relateret til arvelig hjertesygdom, alle gener i de 4 nedenstående delpaneler er inkluderet.
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2020-10-01 til 2022-08-17
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ABCC9, ACTC1, ACTN2, ANKRD1 , BAG3, CDH2, CRYAB , CSRP3, CTNNA3 , DES, DMD, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKTN, FLNC, FXN, GATA4, GLA, GAA, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK3, MYOZ2, MYPN, NEBL, NEXN, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ZBTB17
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2020-10-01 til 2022-08-17
APOB, LDLR, PCSK9
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ingen
Gyldighed
2020-10-01 til 2022-08-17
ACTA2, CBS, COL3A1, COL4A5 , EFEMP2, ELN, FBLN2 , FBN1, FBN2, FLNA, GATA5, HCN4, HEYL, LOX, MMP3 , MYH11, MYLK, NOTCH1, PKD1, PKD2, PLOD1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TIMP4
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2020-10-01 til 2022-08-17
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AKAP9, ANK2, ANO1, BEST3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GPD1L, HCN4, KCND3, KCNE1 , KCNE2, KCNE3, KCNE5, KCNH2 , KCNJ2 , KCNJ5, KCNJ8, KCNQ1 , LMNA, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC22A5, SLC4A3, SNTA1, TECRL, TRDN, TRPM4
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2020-10-01 til 2022-08-17
Gyldighed: 2018-08-15 til 2020-09-30
MOMA Hjertepanel v3, gælder fra 2015-10-05 til 2018-08-14
NGS Panelet indeholder 111 hjerte-relaterede gener, alle nedenstående gener i delpanelerne er inkluderet.
Kardiomyopati
ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKTN, FXN, GATA4, GJA5, GLA, GPD1L, GAA, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SGCD, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
DCM, Familiær dilateret kardiomyopati
ACTC1, ANKRD1, BAG3, CSRP3, DES, DMD, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NPPA, PLN , RBM20, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN
HCM, Hypertrofisk kardiomyopati
ACTC1, ANKRD1, CSRP3, JPH2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, RAF1, SGCD, TCAP, TNNI3, TNNT2, TPM1
ARVC, Arytmogen højre ventrikel kardiomyopati
DES, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
Primær arvelig arytmi
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DPP6, GPD1L, HCN1, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC22A5, SLC8A1, SNTA1, TBX5, TRDN, TRPM4
LQTS, Langt QT syndrom
AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE5, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B , SCN5A, SNTA1, TRDN
SQTS, Kort QT syndrom
ABCC9, CACNA1C, CACNB2, KCNJ2, KCNQ1
BrS, Brugada syndrom
CACNA1C, CACNA2D1, CACNB2, GPD1L, KCND3, KCNE1, KCNE2, RANGRF, SCN10A, SCN1B, SCN3B, SCN4B, SCN5A
CPVT, Katecholaminerg polymorf ventrikulær takykardi
CALM1, CALM2, CALM3, CASQ2, RYR2, TRDN
ERS, Tidlig repolarisationssygdom
ABCC9, CACNA1C, CACNB2, SCN5A
PCCD, Progressive kardielle overledningsforstyrrelser
KCNA5, LMNA, NKX2-5, SCN5A, TBX5
Familiær hyperkolesterolæmi
APOB, LDLR, PCSK9
Amyloidosis
TTR
ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, MC4R, NEUROD1, PAX4, PDX1
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2020-10-01 til 2022-08-17