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 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 this gene is/these genes are tested using genomic sequencing (“next generation sequencing” or NGS), and testing has not identified a pathogenic variant, the value of testing using another methodology (e.g. MLPA, Sanger sequencing) 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. If germline mosaicism is suspected, testing of two or more different tumour samples is ideal, if possible.