NGS-Panel Dx

Genname Referenzsequenz OMIM Region
AKT1 NM_005163.2 164730 Exon 3
APC NM_000038.5 611731 gesamte kodierende Sequenz
BRAF NM_004333.4 164757 Exon 15
EGFR NM_005228.3 131550 Exon 12, 18, 19, 20, 21, fokale Amplifikation
ERBB2 NM_004448.2 164870 Exon 14, 17, 18, 19, 20, 21, 24, 26, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2, 3
KRAS NM_033360.2 190070 Exon 2, 3, 4
MAP2K1 NM_002755.3 176872 Exon 1, 2, 3, 6, 7, 8, 9
MET NM_001127500.1 164860 Exon 13, 14, 15, 16, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2, 3, 4
PIK3CA NM_006218.2 171834 Exon 10, 21
TP53 NM_000546.5 191170 gesamte kodierende Sequenz

 

Genname Referenzsequenz OMIM Region
AKT1 NM_005163.2 164730 Exon 3
ALK NM_004304.4 611731 Exon 21, 22, 23, 24, 25, Fusion
BRAF NM_004333.4 164757 Exon 15
CTNNB1 NM_001904.3 116806 Exon 3
DDR2 NM_001014796.1 191311 gesamte kodierende Sequenz
EGFR NM_005228.3 131550 Exon 12, 18, 19, 20, 21, fokale Amplifikation
ERBB2 NM_004448.2 164870 Exon 14, 17, 18, 19, 20, 21, 24, 26, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2, 3
KIT NM_000222.2 164920 Exon 8, 9, 10, 11, 13, 14, 17, 18
KRAS NM_033360.2 190070 Exon 2, 3, 4
MAP2K1 NM_002755.3 176872 Exon 1, 2, 3, 6, 7, 8, 9
MET NM_001127500.1 164860 Exon 13, 14, 15, 16, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2, 3, 4
PIK3CA NM_006218.2 171834 Exon 10, 21
RET NM_020975.4 164761 Fusion
ROS1 NM_002944.2 165020 Fusion
STK11 NM_000455.4 602216 gesamte kodierende Sequenz
TP53 NM_000546.5 191170 gesamte kodierende Sequenz

 

Genname Referenzsequenz OMIM Region
BAP1 NM_004656.3 603089 gesamte kodierende Sequenz
BRAF NM_004333.4 164757 Exon 15
GNA11 NM_002067.2 139313 Exon 5
GNAQ NM_002072.3 600998 Exon 5
KIT NM_000222.2 164920 Exon 8, 9, 10, 11, 13, 14, 17, 18
MAP2K1 NM_002755.3 176872 Exon 1, 2, 3, 6, 7, 8, 9
MET NM_001127500.1 164860 Exon 13, 14, 15, 16, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2, 3, 4
PDGFRA NM_006206.4 173490 Exon 12, 14, 18
TP53 NM_000546.5 191170 gesamte kodierende Sequenz

 

Genname Referenzsequenz OMIM Region
BCOR NM_001123385.1 300485 gesamte kodierende Sequenz
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 gesamte kodierende Sequenz
CDKN2B NM_004936.3 600431 gesamte kodierende Sequenz
CDKN2C NM_078626.2 603369 gesamte kodierende Sequenz
EGFR NM_005228.3 131550 Exon 12, 18, 19, 20, 21, fokale Amplifikation
H3F3A NM_002107.4 601128 Exon 2
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
KIT NM_000222.2 164920 Exon 8, 9, 10, 11, 13, 14, 17, 18
KRAS NM_033360.2 190070 Exon 2, 3, 4
MET NM_001127500.1 164860 Exon 13, 14, 15, 16, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2, 3, 4
PDGFRA NM_006206.4 173490 Exon 12, 14, 18
PIK3CA NM_006218.2 171834 Exon 10, 21
PTEN NM_000314.6 601728 gesamte kodierende Sequenz
STAG2 NM_001042749.2 300826 gesamte kodierende Sequenz
TERT NM_198253.2 187270 Promoterregion
TP53 NM_000546.5 191170 gesamte kodierende Sequenz

 

Genname Referenzsequenz OMIM Region
BRAF NM_004333.4 164757 Exon 15
EGFR NM_005228.3 131550 Exon 12, 18, 19, 20, 21, fokale Amplifikation
ERBB2 NM_004448.2 164870 Exon 14, 17, 18, 19, 20, 21, 24, 26, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2, 3
KRAS NM_033360.2 190070 Exon 2, 3, 4
MET NM_001127500.1 164860 fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2, 3, 4
PIK3CA NM_006218.2 171834 Exon 10, 21
RET NM_020975.4 164761 Exon 2, 5, 7, 9, 10, 11, 13, 14, 15, 16, 17, 18, 19, Fusion
TERT  NM_198253.2 187270 Promoterregion
TP53 NM_000546.5 191170 gesamte kodierende Sequenz

 

Die gesamte Genliste ist auf Anfrage erhältlich (nicht akkreditiertes Verfahren)

Genname Referenzsequenz OMIM Region
ASXL1 NM_015338.5 612990 Exon 12, 13
CALR NM_004343.3 109091 Exon 9
CBL NM_005188.3 165360 Exon 8, 9
CEBPA NM_004364 116897 Exon 1
CSF3R NM_156039.3 138971 Exon 14, 17
DNMT3A NM_022552.4 602769 gesamte kodierende Sequenz
EZH2 NM_004456.4 601573 gesamte kodierende Sequenz
FLT3 NM_004119.2 136351 Exon 14, 15, 20
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
JAK2 NM_004972.3 147796 Exon 12, 14
JAK3 NM_000215.3 600173 Exon 13
KIT NM_000222.2 164920 Exon 8, 9, 10, 11, 13, 14, 17, 18
KRAS NM_033360.2 190070 Exon 2, 3, 4
MPL NM_005373.2 159530 Exon 10
NOTCH1 NM_017617.4 190198 Exon 26, 27, 31, 34
NOTCH2 NM_024408.3 600275 Exon 26, 27, 31, 34
NPM1 NM_002520.6 164040 Exon 11
PTPN11 NM_002834.4 176876 Exon 3, 13
RUNX1 NM_001754.4 151385 gesamte kodierende Sequenz
SETBP1 NM_015559.2 611060 Exon 4
SF3B1 NM_012433.3 605590 Exon 13, 14, 15, 16
SRSF2 NM_001195427 600813 Exon 1, 2
TET2 NM_001127208.2 612839 gesamte kodierende Sequenz
TP53 NM_000546.5 191170 gesamte kodierende Sequenz
U2AF1 NM_006758.2 191317 Exon 2, 5, 6

 

Genname Referenzsequenz OMIM Region
CARD11 NM_032415.5 607210 Exon 4, 5, 6, 7, 8, 9, 10
CD79B NM_001039933.2, NM_000626.3 147245 Exon 5, 6 (partiell)
CREBBP NM_004380.2 600140 gesamte kodierende Sequenz
EZH2 NM_004456.4 601573 Exon 16, 18
GNA13 NM_006572.5 604406 gesamte kodierende Sequenz
MYD88 NM_001172567.1, NM_002468.4
602170 Exon 3, 4, 5 (partiell)
PIM1 NM_001243186.1, NM_002648.3
164960 gesamte kodierende Sequenz
PRDM1 NM_001198.3 603423 gesamte kodierende Sequenz
SOCS1 NM_003745.1 603597 Exon 2 (partiell)
STAT6 NM_001178078.1 601512 Exon 12, 13, 14
TNFAIP3 NM_001270508.1 191163 gesamte kodierende Sequenz
TNFRSF14 NM_003820.3 602746 gesamte kodierende Sequenz

 

Genname Referenzsequenz OMIM Region
ATM NM_000051.3 607585 gesamte kodierende Sequenz
BCOR NM_001123385.1 300485 Exon 4, 8
BIRC3 NM_001165.4 601721 gesamte kodierende Sequenz
BTK NM_000061.2 300300 Exon 15
EGR2 NM_000399.3 129010 Exon 2, 3
FBXW7 NM_033632.3 606278 gesamte kodierende Sequenz
KRAS NM_033360.2 190070 Exon 2, 3
MYD88 NM_001172567.1 602170 Exon 3, 4, 5
NOTCH1 NM_017617.4 190198 Exon 26, 27, 28, 34
NRAS NM_002524.4 164790 Exon 2, 3, 4
PLCG2 NM_002661.3 600220 Exon 19, 20, 24
POT1 NM_015450.2 606478 Exon 5 - 19
SAMHD1 NM_015474.3 606754 gesamte kodierende Sequenz
SF3B1 NM_012433.3 605590 Exon 13, 14, 15, 16, 18
TP53 NM_000546.5 191170 gesamte kodierende Sequenz
XPO1 NM_003400.3 602559 Exon 14, 15, 16

 

Genname Referenzsequenz OMIM Region
BRCA1 NM_007294.3 113705 gesamte kodierende Region
BRCA2 NM_000059.3 600185 gesamte kodierende Region