In our laboratory, we conduct the following molecular genetic examinations:
- Determination of fusion genes in acute leukemia at the transcript level: BCR::ABL1 (major type), BCR::ABL1 (minor type), CBFB::MYH11, DEK::NUP214, ETV6::ABL1 (TEL::ABL1), ETV6::MN1 (also known as TEL::MN1), ETV6::PDGFRB (TEL::PDGFRB), ETV6::RUNX1 (TEL::AML1), FUS::ERG, KMT1A::MLLT11 (MLL::AF1Q), KMT2A::AFDN (MLL::AF6), KMT2A::AFF1 (MLL::AF4), KMT2A::ELL (MLL::ELL), KMT2A::EPS15 (MLL::MLLT5), KMT2A::FOXO4 (MLL::FOXO4), KMT2A::MLLT1 (MLL::ENL), KMT2A::MLLT10 (MLL::AF10), KMT2A::MLLT3 (MLL::AF9), KMT2A::MLLT6 (MLL::AF17), NPM1::MLF1, NPM1::RARA, PML::RARA, RUNX1::MECOM (AML1::EVI1), RUNX1::RUNX1T1 (AML1::ETO), SET::NUP214, STIL::TAL1, TCF3::HLF (E2A::HLF), TCF3::PBX1 (E2A::PBX1), ZBTB16::RARA
- Detection of fusion genes and mutations in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) using targeted next-generation sequencing (NGS) at the genomic level
- Identification of acquired genetic aberrations in the form of fusion genes, other structural aberrations (SV), and mutations of single-nucleotide variants (SNV), insertions, deletions, and combined insertion-deletion mutations using whole-transcriptome sequencing (WTS) in patients with ALL, AML, or unspecified types of hematological malignancy
- Detection of genetic aberrations in patients with myelodysplastic syndromes (MDS) and unclear blood formation disorders using targeted next-generation sequencing (NGS) at the genomic level
- Monitoring of minimal residual disease (MRD) using clonally-specific rearrangements of genes for immunoglobulins (Ig) and T-cell receptors (TCR) in patients with ALL
- Monitoring of MRD using quantification of fusion genes, other structural aberrations, and mutated alleles of genes at the DNA or RNA level in ALL and AML
- Processing and cryopreservation of samples from pediatric patients with hematologic disease
- Isolation of nucleic acids in children with hematologic disease
The CLIP-Molecular Genetics Laboratory has implemented a quality management system according to the requirements of the ČSN EN ISO 15189 standard and valid methodological guidelines for accreditation of medical laboratories.