NGS-GENPANEL Dx

NGS-Genpanel Dx*

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Aderhautmelanom
Genname Referenzsequenz OMIM analysierte Region
BAP1 NM_004656.3 603089 Exon 1 - 17
BRAF NM_004333.4 164757 Exon 15
CYSLTR2 NM_001308465.3 605666 Exon 6
EIF1AX NM_001412.4 300186 Exon 1, 2
GNA11 NM_002067.4 139313 Exon 5
GNAQ NM_002072.4 600998 Exon 5
KIT NM_000222.2 164920 Exon 8 - 20
NRAS NM_002524.4 164790 Exon 2 - 3
PLCB4 NM_001172646.2 600810 Exon 23
SF3B1 NM_012433.3 605590 Exon 13 - 16, 18
CUP-Syndrom
Genname Referenzsequenz OMIM analysierte Region
ALK NM_004304.4 105590 Exon 19-28
BRAF NM_004333.4 164757 Exon 15
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
EGFR NM_005228.4 131550 Exon 18-21, fokale Amplifikation
ERBB2 NM_004448.3 164870 Exon 12-22
FGFR1 NM_023110.3 136350 Exon 4, 5, 11-16
FGFR2 NM_022970.3 176943 Exon 5-9, 12-17
FGFR3 NM_000142.4 134934 Exon 7-17
FGFR4 NM_213647.3 134935 Exon 3, 6, 9, 10, 12, 13, 15, 16
HRAS NM_001130442.2 190020 Exon 2, 3
IDH1 NM_005896.3 147700 Exon 4
KIT NM_000222.2 164920 Exon 9, 11, 13, 17
KRAS NM_033360.3 190070 Exon 2-4
MET NM_001127500.2 164860 Exon 13-15, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2-4
PDGFRA NM_006206.5 173490 Exon 12, 18
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
RET NM_020975.4 164761 Exon 2, 5, 7-19
ROS1 NM_002944.2 165020 Exon 2, 10, 15, 16, 22, 23, 27, 36 - 42
Endometriumkarzinom
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
CTNNB1 NM_001904.3 116806 Exon 3
KRAS NM_033360.3 190070 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
POLD1 NM_002691.4 174761 Exon 7, 11, 14
POLE NM_006231.4 174762 Exon 9, 11, 13, 14
PTEN NM_000314.6 601728 Exon 1-9
TP53 NM_000546.5 191170 Exon 2-11
Gallenblasen- und Gallengangkarzinom
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
ERBB2 NM_004448.3 164870 Exon 12-22
FGFR2 NM_022970.3 176943 Exon 5-9, 12-18
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
KRAS NM_033360.3 190070 Exon 2-4
NRAS NM_002524.4 164790 Exon 2-4
Gastrointestinaler Stromatumor (GIST)
Genname Referenzsequenz OMIM analysierte Region
KIT NM_000222.2 164920 Exon 8-20
PDGFRA NM_006206.5 173490 Exon 12, 14, 18
Harnblasenkarzinom
Genname Referenzsequenz OMIM analysierte Region
CDKN2A NM_001195132.1 600160 Exon 1-3
CTNNB1 NM_001904.3 116806 Exon 3
ERBB2 NM_004448.3 164870 Exon 12-22
FGFR1 NM_023110.3 136350 Exon 4, 5, 11-16
FGFR2 NM_022970.3 176943 Exon 5-9, 12-17
FGFR3 NM_000142.4 134934 Exon 7-17
FGFR4 NM_213647.3 134935 Exon 3, 6, 9, 10, 12, 13, 15, 16
HRAS NM_001130442.2 190020 Exon 2, 3
KRAS NM_033360.3 190070 Exon 2-4
NRAS NM_002524.4 164790 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
SF3B1 NM_012433.3 605590 Exon 13-16
TERT NM_198253.2 187270 Promotor
TP53 NM_000546.5 191170 Exon 2-11
Gliom
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1-3
CDKN2B NM_004936.3 600431 Exon 1-2
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
TERT NM_198253.2 187270 Promotor
TP53 NM_000546.5 191170 Exon 2-11
Glioblastom
Genname Referenzsequenz OMIM analysierte Region
BCOR NM_001123385.1 300485 Exon 2-15
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1-3
CDKN2B NM_004936.3 600431 Exon 1-2
CDKN2C NM_078626.2 603369 Exon 1-2
EGFR NM_005228.4 131550 Exon 18-21, 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 9, 11, 13, 17
KRAS NM_033360.3 190070 Exon 2-4
MET NM_001127500.2 164860 Exon 13-15, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2-4
PDGFRA NM_006206.5 173490 Exon 12, 18
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
PTEN NM_000314.6 601728 Exon 1-9
STAG2 NM_001042749.2 300826 Exon 3-35
TERT NM_198253.2 187270 Promotor
TP53 NM_000546.5 191170 Exon 2-11
Genname Referenzsequenz OMIM analysierte Region
AKT1 NM_005163.2 164730 Exon 2-14
BAP1 NM_004656.3 603089 Exon 1-17
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1-3
CDKN2B NM_004936.3 600431 Exon 1-2
FGFR3 NM_000142.4 134934 Exon 7-17
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
MET NM_001127500.2 164860 Exon 14-21
NOTCH2 NM_024408.3 600275 Exon 26, 27, 31, 34
PIK3CA NM_006218.3 171834 Exon 10, 21
PTEN NM_000314.6 601728 Exon 1-9
TERT NM_198253.2 187270 Promotor
TP53 NM_000546.5 191170 Exon 2-11
Genname Referenzsequenz OMIM analysierte Region
AKT1 NM_005163.2 164730 Exon 3
APC NM_000038.5 611731 Exon 2-16
BRAF NM_004333.4 164757 Exon 15
EGFR NM_005228.4 131550 Exon 18-21, fokale Amplifikation
ERBB2 NM_004448.3 164870 Exon 1-27, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2-3
KRAS NM_033360.3 190070 Exon 2-4
MAP2K1 NM_002755.3 176872 Exon 1-3, 6-9
NRAS NM_002524.4 164790 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
POLE NM_006231.4 174762 Exon 9, 11, 13, 14
TP53 NM_000546.5 191170 Exon 2-11
Genname Referenzsequenz OMIM analysierte Region
AKT1 NM_005163.2 164730 Exon 3
ALK NM_004304.4 105590 Exon 19-28, Fusionen
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1-3
CTNNB1 NM_001904.3 116806 Exon 3
DDR2 NM_001014796.1 191311 Exon 4-19
EGFR NM_005228.4 131550 Exon 18-21, fokale Amplifikation
ERBB2 NM_004448.3 164870 Exon 19-21, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2, 3
KEAP1 NM_203500.2 606016 Exon 2-5
KRAS NM_033360.3 190070 Exon 2-4
MAP2K1 NM_002755.3 176872 Exon 1-3, 6-9
MET NM_001127500.2 164860 Exon 13-21, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2-4
NRG1 NM_013956.5 142445 Intron 2
PIK3CA NM_006218.3 171834 Exon 10, 21
RET NM_020975.4 164761 Exon 2, 5, 7-19, Fusionen
ROS1 NM_002944.2 165020 Exon 2, 10, 15, 16, 22, 23, 27, 36-42, Fusionen
SMAD4 NM_005359.6 600993 Exon 2-12
STK11 NM_000455.4 602216 Exon 1, 2
TP53 NM_000546.5 191170 Exon 2-11

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Mammakarzinom, nur BRCA
Genname Referenzsequenz OMIM analysierte Region
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
Genname Referenzsequenz OMIM analysierte Region
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
ERBB2 NM_004448.3 164870 Exon 6-25
ESR1 NM_001122742.2 133430 Exon 6-10
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1 -3
HRAS NM_001130442.2 190020 Exon 2, 3
KIT NM_000222.2 164920 Exon 8 - 20
KRAS NM_033360.3 190070 Exon 2 - 3
NRAS NM_002524.4 164790 Exon 2 - 3
MAP2K1 NM_002755.3 176872 Exon 1 - 3, 6 - 9
PDGFRA NM_006206.5 173490 Exon 12, 14, 18
PIK3CA NM_006218.3 171834 Exon 7, 9, 20
TERT NM_198253.2 187270 Promotor
Pankreaskarzinom, nur BRCA Analyse
Genname Referenzsequenz OMIM analysierte Region
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
Pankreaskarzinom
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
ERBB2 NM_004448.3 164870 Exon 12-22
KRAS NM_033360.3 190070 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
TP53 NM_000546.5 191170 Exon 2-11
Genname Referenzsequenz OMIM analysierte Region
CDKN2A NM_001195132.1 600160 Exon 1-3
CTNNB1 NM_001904.3 116806 Exon 3
GNAS NM_000516.7 139320 Exon 8, 9
KRAS NM_033360.3 190070 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
SMAD4 NM_005359.6 600993 Exon 3-12
TP53 NM_000546.5 191170 Exon 2-11
VHL NM_000551.4 608537 Exon 1-3
Genname Referenzsequenz OMIM analysierte Region
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
Spitz-Tumor
Genname Referenzsequenz OMIM analysierte Region
BAP1 NM_004656.3 603089 Exon 1-17
BRAF NM_004333.4 164757 Exon 15
CDKN2A NM_001195132.1 600160 Exon 1-3
HRAS NM_001130442.2 190020 Exon 2, 3
MAP2K1 NM_002755.3 176872 Exon 1-3, 6-9
MAP3K8 NM_005204.3 191195 Intron 8
PTEN NM_000314.6 601728 Exon 1-9
TERT NM_198253.2 187270 Promotor
Ovarial-, Peritoneal-, Tubenkarzinom
Genname Referenzsequenz OMIM analysierte Region
BRCA1 NM_007300.3 113705 Exon 2-24
BRCA2 NM_000059.3 600185 Exon 2-27
Schilddrüsenkarzinom
Genname Referenzsequenz OMIM analysierte Region
BRAF NM_004333.4 164757 Exon 15
EGFR NM_005228.4 131550 Exon 18-21, fokale Amplifikation
ERBB2 NM_004448.3 164870 Exon 12-22, fokale Amplifikation
HRAS NM_001130442.2 190020 Exon 2-3
KRAS NM_033360.3 190070 Exon 2-4
MET NM_001127500.2 164860 Exon 13-15, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
RET NM_020975.4 164761 Exon 2, 5, 7, 8-19
TERT NM_198253.2 187270 Promotor
TP53 NM_000546.5 191170 Exon 2-11
Urachuskarzinom
Genname Referenzsequenz OMIM analysierte Region
APC NM_000038.5 611731 Exon 2-16
BRAF NM_004333.4 164757 Exon 15
EGFR NM_005228.4 131550 Exon 18-21, fokale Amplifikation
ERBB2 NM_004448.3 164870 Exon 12-22, fokale Amplifikation
KIT NM_000222.2 164920 Exon 9, 11, 13, 17
KRAS NM_033360.3 190070 Exon 2-4
MAP2K1 NM_002755.3 176872 Exon 1-3, 6-9
MET NM_001127500.2 164860 Exon 13, 14, 15, fokale Amplifikation
NRAS NM_002524.4 164790 Exon 2-4
PIK3CA NM_006218.3 171834 Exon 8, 10, 21
PTEN NM_000314.6 601728 Exon 1-9
TP53 NM_000546.5 191170 Exon 2-11

Zusätzlich zu den hier aufgeführten Untersuchungen können andere Genkombinationen angefordert werden. Bitte sprechen Sie uns hierzu an.

Akute myeloische Leukämie (AML)
Genname Referenzsequenz OMIM analysierte Region
ASXL1 NM_015338.5 612990 Exon 12, 13
CEBPA NM_004364.4 116897 Exon 1
DNMT3A NM_022552.4 602769 Exon 2- 23
FLT3 NM_004119.3 136351 Exon 10, 11, 14-17, 20
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
KIT NM_000222.2 164920 Exon 8, 17
NPM1 NM_002520.6 164040 Exon 11
RUNX1 NM_001754.4 151385 Exon 2-9
TP53 NM_000546.5 191170 Exon 2-11
Chronische lymphatische Leukämie (CLL)
Genname Referenzsequenz OMIM analysierte Region
ATM NM_000051.3 607585 Exon 2- 63
BCOR NM_001123385.1 300485 Exon 2- 15
BIRC3 NM_001165.4 601721 Exon 2- 9
BTK NM_000061.2 300300 Exon 15
EGR2 NM_000399.4 129010 Exon 2-3
FBXW7 NM_033632.3 606278 Exon 2-12
KRAS NM_033360.3 190070 Exon 2-3
MYD88 NM_002468.4 602170 Exon 2-5
NOTCH1 NM_017617.4 190198 Exon 26-28, 31, 34
NRAS NM_002524.4 164790 Exon 2, 3
PLCG2 NM_002661.4 600220 Exon 19, 20, 24
POT1 NM_015450.2 606478 Exon 5-19
SAMHD1 NM_015474.3 606754 Exon 1-16
SF3B1 NM_012433.3 605590 Exon 13-16, 18
TP53 NM_000546.5 191170 Exon 2-11
XPO1 NM_003400.3 602559 Exon 14-16
Mastozytose
Genname Referenzsequenz OMIM analysierte Region
ASXL1 NM_015338.5 612990 Exon 12, 13
CBL NM_005188.3 165360 Exon 8, 9
EZH2 NM_004456.4 601573 Exon 2-20
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
JAK2 NM_004972.3 147796 Exon 8, 12-16
KIT NM_000222.2 164920 Exon 8, 17
KRAS NM_033360.3 190070 Exon 2, 3
NRAS NM_002524.4 164790 Exon 2, 3
RUNX1 NM_001754.4 151385 Exon 2-9
SF3B1 NM_012433.3 605590 Exon 13-16, 18
SRSF2 NM_001195427.1 600813 Exon 1, 2
TET2 NM_001127208.2 612839 Exon 3-11
Myeloproliferative Neoplasien (MPN)
Genname Referenzsequenz OMIM analysierte 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_004364.4 116897 Exon 1
CSF3R NM_156039.3 138971 Exon 14, 17
DNMT3A NM_022552.4 602769 Exon 2-23
EZH2 NM_004456.4 601573 Exon 2-20
FLT3 NM_004119.3 136351 Exon 10, 11, 14-17, 20
IDH1 NM_005896.3 147700 Exon 4
IDH2 NM_002168.3 147650 Exon 4
JAK2 NM_004972.3 147796 Exon 8, 12-16
JAK3 NM_000215.3 600173 Exon 13
KIT NM_000222.2 164920 Exon 8, 17
KRAS NM_033360.3 190070 Exon 2, 3
MPL NM_005373.2 159530 Exon 10
NPM1 NM_002520.6 164040 Exon 11
NRAS NM_002524.4 164790 Exon 2, 3
PTPN11 NM_002834.4 176876 Exon 3, 13
RUNX1 NM_001754.4 151385 Exon 2-9
SETBP1 NM_015559.2 611060 Exon 4
SF3B1 NM_012433.3 605590 Exon 13-16, 18
SRSF2 NM_001195427.1 600813 Exon 1, 2
TET2 NM_001127208.2 612839 Exon 3-11
TP53 NM_000546.5 191170 Exon 2-11
U2AF1 NM_006758.2 191317 Exon 2, 5, 6
B-Zell Lymphom
Genname Referenzsequenz OMIM analysierte Region
CARD11 NM_032415.5 607210 Exon 4-10
CD79B NM_001039933.2 147245 Exon 5, 6
CREBBP NM_004380.2 600140 Exon 1-31
EZH2 NM_004456.4 601573 Exon 16, 18
GNA13 NM_006572.5 604406 Exon 1-4
MYD88 NM_002468.4 602170 Exon 3-5
PIM1 NM_001243186.1 164960 Exon 1-6
PRDM1 NM_001198.3 603423 Exon 1-7
SOCS1 NM_003745.1 603597 Exon 2
STAT6 NM_001178078.1 601512 Exon 12-14
TNFAIP3 NM_001270508.1 191163 Exon 2-9
TNFRSF14 NM_003820.3 602746 Exon 2-9
T-Zell Lymphom
Genname Referenzsequenz OMIM analysierte Region
CARD11 NM_032415.5 607210 Exon 4-11
CD28 NM_006139.4 186760 Exon 3, 4
DNMT3A NM_022552.4 602769 Exon 2-23
IDH2 NM_002168.2 147650 Exon 4
JAK1 NM_002227.4 147795 Exon 5, 14, 15, 17, 21
JAK3 NM_000215.3 600173 Exon 11-17
MSC NM_005098.3 603628 Exon 1
NCOR1 NM_006311.4 600849 Amplifikationen
PLCG1 NM_002660.3 172420 Exon 1, 11, 15, 23, 29
RHOA NM_001664.4 165390 Exon 2-5
SETD2 NM_014159.6 612778 Amplifikationen
STAT3 NM_139276.2 102582 Exon 19-22
STAT5B NM_012448.3 604260 Exon 15-17
TET2 NM_001127208.2 612839 Exon 3-11
TP53 NM_000546.5 191170 Exon 2-11
Genname Referenzsequenz OMIM analysierte Region
ARID1A NM_006015.4 603024 Exon 1-20
BCOR NM_001123385.1 300485 Exon 5-15
CARD11 NM_032415.5 607210 Exon 4-10
CD28 NM_006139.4 186760 Exon 3, 4
DNMT3A NM_022552.4 602769 Exon 2-23
MSC NM_005098.3 603628 Exon 1
NCOR1 NM_006311.4 600849 Amplifikationen
PLCG1 NM_002660.3 172420 Exon 1, 11, 15, 23, 29
RHOA NM_001664.4 165390 Exon 2-5
SETD2 NM_014159.6 612778 Amplifikationen
STAT3 NM_139276.2 102582 Exon 19-22
STAT5B NM_012448.3 604260 Exon 15-17
TP53 NM_000546.5 191170 Exon 2-11

*letzte Akutalisierung 07.11.2022, gemäß M5-003R_R0_Genregionen_NGS Panel