CBFA2T3::GLIS2
Quantitative RQ-PCR detection and monitoring of the inv(16)(p13.3q24.3) CBFA2T3::GLIS2 fusion in AML with RAM immunophenotype.
CBFB::MYH11 inv(16) or t(16;16)
Quantitative RQ-PCR detection and monitoring of CBFB::MYH11 fusion transcripts (types A, D, E) from inv(16)/t(16;16) in AML.
CD33 SNP Genotyping
Allele-specific PCR genotyping of the CD33 rs12459419 SNP, associated with CD33 antigen expression and gemtuzumab response.
CEBPa bZIP Mutation Analysis
PCR fragment-length analysis of duplications/deletions in the CEBPA bZIP domain for AML diagnosis and monitoring.
CXCR4 Mutation Analysis
Sanger sequencing of CXCR4 c-terminal mutations associated with ibrutinib resistance in Waldenström's macroglobulinemia.
DEK::NUP214 t(6;9)
Quantitative RQ-PCR detection and monitoring of the t(6;9)(p22;q34) DEK::NUP214 fusion transcript in AML.
ETV6::RUNX1 t(12;21)
Quantitative RQ-PCR detection of the t(12;21) ETV6::RUNX1 (TEL::AML1) fusion, associated with favorable prognosis in ALL.
FIP1L1::PDGFRA del(4q12)
Quantitative RQ-PCR detection of the FIP1L1::PDGFRA fusion from interstitial 4q12 deletion in HES and chronic eosinophilic leukemia.
FLT3 ITD/TKD Mutation Analysis
PCR fragment analysis with EcoRV digest detecting FLT3 internal tandem duplications (ITD) and D835 tyrosine kinase domain mutations in AML.
IDH1 Mutation Analysis
Sanger sequencing of IDH1 exon 4 mutations including R132 to inform IDH inhibitor treatment decisions.