A range of testing methodologies are needed to identify pathogenic changes in the CDC73 gene including:
Information about DNA tests and testing laboratories is available from:
If a decision is made to test this gene(s) as part of a cancer gene panel, care should be taken to select a panel where the individual genes tested have both clinical validity and clinical utility.
If testing of this gene using a next generation sequence cancer gene panel is uninformative, MLPA should be considered.
If germline gene testing is uninformative and immunohistochemistry demonstrated loss of parafibromin, gene testing of tumour samples may be helpful in identifying somatic variants or possible germline mosaicism.