Testing methods vary from laboratory to laboratory and may affect the likelihood that the lab will identify a mutation in the gene if one is present. Different laboratory studies have the ability to detect different types of mutations. Accuracy will vary, depending upon the type of genetic testing method performed.
Chromosome studies may be performed when a child is born with multiple birth defects or when people have certain types of leukemias and lymphomas, to look for specific chromosome rearrangements associated with these types of cancers. Direct DNA studies look directly at the gene in question for an error.
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