A range of testing methodologies are needed to identify pathogenic changes in the SMAD4 or BMPR1A genes including:rr
- sequencing of both genes including BMPR1A promoter region
- copy number analysis (e.g. MLPA)
Information about DNA tests and testing laboratories is available from:
If a decision is made to test these genes 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 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 genetic testing in DNA from peripheral blood is uninformative, testing of two or more different tumour samples may be indicated to assess for mosaicism.