Fluorescence In Situ Hybridization

FISH and the related in situ hybridization (ISH) techniques provide complementary genomic information to qPCR, ddPCR, NGS, and NanoString techniques. This technology was initially developed as a physical mapping tool to delineate genes within chromosomes. Its high analytical resolution to a single gene level and high sensitivity and specificity enables an immediate application in genetic diagnosis of constitutional common aneuploidies, microdeletion/microduplication syndromes, and subtelomeric rearrangements. FISH tests using panels of gene-specific probes for somatic recurrent losses, gains, and translocations have been routinely applied for hematologic and solid tumors, and are one of the fastest growing areas in cancer diagnosis. FISH has also been used to detect infectious microbia and parasites such as malaria in human blood cells.