NUP98::NSD1 t(5;11)
Quantitative RQ-PCR detection of NUP98::NSD1 fusion transcripts from the cryptic t(5;11) translocation.
RBM15::MRTFA t(1;22)
Quantitative RQ-PCR detection of RBM15::MRTFA (MKL1) fusion transcripts from the t(1;22) translocation.
RUNX1::RUNX1T1 (AML1-ETO) t(8;21)
Quantitative RQ-PCR detection of RUNX1::RUNX1T1 (AML1::ETO) fusion from t(8;21), associated with favorable prognosis in AML.
IDH1 Mutation Analysis
Sanger sequencing of IDH1 exon 4 mutations including R132 to inform IDH inhibitor treatment decisions.
IDH2 Mutation Analysis
Sanger sequencing of IDH2 exon 4 mutations at codons R140 and R172 to inform IDH inhibitor treatment decisions.
ABL1 Tyrosine Kinase Domain Mutation Analysis
Sanger sequencing of ABL1 tyrosine kinase domain to detect imatinib resistance mutations in BCR::ABL1-positive CML, ALL, and AML.
BCR::ABL1 Qualitative Breakpoints p190 vs p210
Qualitative RQ-PCR identification of BCR::ABL1 fusion transcript breakpoint type (major p210 vs minor p190) for diagnosis of CML, ALL, and AML.
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.
