FISH, Chromosome 20q Deletion

Use

This fluorescence in situ hybridization (FISH) assay detects chromosome 20q12 deletion and may aid in the diagnosis and prognostic assessment of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Deletion of chromosome 20q is a recurrent genetic abnormality associated with myeloid disorders, including MDS and AML. In the diagnosis of MDS, del(20q) is considered one of the MDS‑associated karyotypes and can be used to help establish the diagnosis. According to the Revised International Prognostic Scoring System (IPSS‑R), del(20q) as a single anomaly in patients with MDS indicates good prognosis. A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities. The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.