Targeted Regions for Solid Tumor Mutation Panel by NGS

Test Code: 2007991

Specific somatic variants have been discovered in multiple cancer-related genes and have diagnostic, therapeutic, and/or prognostic utility in several cancer types. Targeted next-generation sequencing is utilized in this test for the detection of hotspot variants within 44 cancer-related genes and includes extended RAS variant detection. The personalized mutational profile may be useful for patient diagnosis, prognosis and/or response to targeted therapies in solid tumors including, melanoma, gastrointestinal stromal tumors (GIST), colorectal cancers, bladder cancers, and hepatocellular cancers. Targeted regions are listed in the table below.

Gene Accession No. Targeted Exons
AKT1 NM_001014431.1 3, 4, 6
ALK NM_004304.4 16-29
APC NM_000038.5 16a
ATM NM_000051.3 8, 9, 12, 17, 26, 34-36, 39, 50, 54-56, 59, 61, 63
BRAF NM_004333.4 11b, 14, 15
CDH1 NM_004360.4 3, 8, 9
CDKN2A NM_000077.4 2b
CTNNB1 NM_001904.3 3
DDR2 NM_001014796.1 18
EGFR NM_005228.4 18-21
ERBB2 NM_004448.3 8, 17-22
ERBB4 NM_005235.2 3, 4, 6-9, 15, 23
EZH2 NM_004456.4 16, 18b
FBXW7 NM_033632.3 5, 8-11
FGFR1 NM_023110.2 4, 7
FGFR2 NM_000141.4 7, 9, 12
FGFR3 NM_000142.4 7, 9, 14, 16, 18
GNA11 NM_002067.4 5
GNAQ NM_002072.4 5b
GNAS NM_000516.5 8, 9
HRAS NM_005343.3 2-4
IDH1 NM_005896.3 4
IDH2 NM_002168.3 4
KDR NM_002253.2 6, 7, 11, 19, 21, 26 ,27, 30
KIT NM_000222.2 2, 9, 10, 11, 13, 14, 15, 17, 18
KRAS NM_004985.4 2, 3, 4
MAP2K1 NM_002755.3 2b, 3, 6, 7b, 11b
MET NM_001127500.2 2c , 11, 13
MTOR NM_004958.3 27-58
NOTCH1 NM_017617.4 26, 27, 34d
NRAS NM_002524.4 2-5
NTRK1 NM_002529.3 5-15, 17
PDGFRA NM_006206.4 12, 14, 15, 18
PIK3CA NM_006218.2 2, 5, 7, 8, 10b, 14b, 19, 21
PTEN NM_000314.6 1b, 2b, 3, 4-9b
RB1 NM_000321.2 4, 6, 10, 11, 14, 17, 18, 20, 21, 22
RET NM_020975.4 6, 7, 8, 10-13, 15, 16
ROS1 NM_002944.2 7, 31-36, 38, 40, 41
SMAD4 NM_005359.5 3-12
SMO NM_005631.4 3, 5, 6, 9-11
STK11 NM_000455.4 1, 4, 5, 6, 8
TERT Promoter (NM_198253.2.1) None e
TP53 NM_000546.5 2-11
VHL NM_000551.3 1-3

Notes:

a c.2390-c.2979, c.3128-c.3497, c.3730-4932

b Exon known to contain known pseudogenes, homologous genomic regions, and/or low mappability regions

c c.374-743, c.815-c.1200+10

d c.7168-c.7657

e Only c.-124C>T, c.-146C>T, c.-57 A>C, c.-125_124delinsTT and c.-139_-138delinsTT hotspot promoter variants reported