Cytogenetic testing can offer diagnosis and help with the long-term management of relevant diseases. It also allows genetic counseling for the patient or their parents about the related risk in any future pregnancies and, in some cases, guides the geneticist as to whether to test other family members. Unfortunately, cytogenetic testing is limited by its resolution. The different methods can identify small gains and losses of genetic material, as well as larger translocations, but they do not allow testing for single nucleotide variations that could contribute to the patient’s condition. There is also the possibility that cytogenetic testing will identify other chromosomal changes that are not necessarily related to the patient’s condition.
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