Somatic structural variants (SVs) are important drivers of cancer development and
progression. In a diagnostic set-up, especially for hematological malignancies, the …

The current standard-of-care cytogenetic techniques for the analysis of hematological
malignancies include karyotyping, fluorescence in situ hybridization, and chromosomal …

Optical genome mapping (OGM) is a technology that is rapidly being adopted in clinical
genetics laboratories for its ability to detect structural variation (eg, translocations …

Simple Summary Today, the classification of acute myeloid leukemia is mainly based on
genetic aberrations found in leukemic cells. Classifying this disease is necessary for exact …

Cytogenetic diagnostics play a crucial role in risk stratification and classification of myeloid
malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) …

Detection of hallmark genomic aberrations in acute myeloid leukemia (AML) is essential for
diagnostic subtyping, prognosis, and patient management. However, cytogenetic …

Acute lymphoblastic leukemias (ALL) are characterized by a large number of cytogenetic
abnormalities of clinical interest that require the use of several complementary techniques …

Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …

Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing
for the detection and prevention of genetic disorders. Historically, cytogenetic methods such …

Leukemias are currently subclassified based on the presence of recurrent cytogenetic
abnormalities and gene mutations. These molecular findings are the basis for risk-adapted …