CD33 SNP Genotyping
Sanger sequencing genotyping of the CD33 rs12459419 SNP, associated with CD33 antigen expression and gemtuzumab response.
CBFA2T3::GLIS2
Quantitative RT-PCR detection and monitoring of the inv(16)(p13.3q24.3) CBFA2T3::GLIS2 fusion in AML with RAM immunophenotype.
KAT6A::CREBBP t(8;16)
Quantitative RT-PCR detection of the KAT6A::CREBBP fusion from t(8;16)(p11;p13) translocation in a subset of AML patients.
CEBPa bZIP Mutation Analysis
PCR fragment-length analysis of duplications/deletions in the CEBPA bZIP domain for AML diagnosis and monitoring.
NUP98::NSD1 t(5;11)
Quantitative RT-PCR detection of NUP98::NSD1 fusion transcripts from the cryptic t(5;11) translocation.
RUNX1::RUNX1T1 (AML1-ETO) t(8;21)
Quantitative RT-PCR detection of RUNX1::RUNX1T1 (AML1::ETO) fusion from t(8;21), associated with favorable prognosis in AML.
KMT2A::MLLT1 / KMT2A::ELL t(11;19)
Quantitative RT-PCR detection of KMT2A::MLLT1 (MLL::ENL) and KMT2A::ELL (MLL::ELL) fusion transcripts from t(11;19) in ALL and AML.
IDH1 Mutation Analysis
Sanger sequencing of IDH1 exon 4 mutations including R132 to inform IDH inhibitor treatment decisions.
KMT2A::MLLT10 (MLL::AF10) t(10;11)
Quantitative RT-PCR detection of KMT2A::MLLT10 fusion transcripts from the t(10;11) translocation.
RBM15::MRTFA t(1;22)
Quantitative RT-PCR detection of RBM15::MRTFA (MKL1) fusion transcripts from the t(1;22) translocation.
