NPM1 Mutation Analysis
PCR fragment analysis of common 4 bp insertion mutations in NPM1 exon 12 for AML diagnosis.
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.
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.
IDH2 Mutation Analysis
Sanger sequencing of IDH2 exon 4 mutations at codons R140 and R172 to inform IDH inhibitor treatment decisions.
B-Cell IGH Gene Rearrangement
PCR fragment-length analysis detecting clonal IGH rearrangements (FR1, FR2, FR3) for B-cell lymphoma diagnosis and monitoring.
IGHV Somatic Hypermutation Analysis
NGS deep sequencing of IGHV to determine somatic hypermutation status, an independent prognostic marker in CLL.
B-Cell IGK Gene Rearrangement
PCR fragment-length analysis of clonal IGK rearrangements for B-cell lymphoma diagnosis and minimal residual disease monitoring.
JAK2 Exon 12 Mutation Analysis
PCR fragment analysis of JAK2 exon 12 insertion/deletion and K539L mutations for myeloproliferative neoplasm diagnosis.
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.