Some Logistics of Testing for Germline Mutations of the BAP1 Gene
BAP1 testing is a relatively straightforward process for trained persons using good equipment. Indeed, that’s true for most tests seeking to identify a mutation in a particular gene. Testing for the BAP1 germline mutation is simply one of many examples of testing for an inherited cancer syndrome, as described here at cancer.gov.
In short, biologic material – such as blood – is needed to access DNA. An animation from the University of Utah illustrates the process of extracting DNA from a collection of cells. The animation is based on obtaining cells by swabbing the inside of a cheek. (By the way, sending in a cheek swab is all it takes to join the pool of potential stem cell (bone marrow) donors – see Be the Match.org.)
Testing for a germline BAP1 mutation can be performed by commercial labs, although one can also hire experts on BAP1. For example, Prevention Genetics in Wisconsin offers single purpose testing specific to the BAP1 mutation. According to a page of its website, the price runs from $250 up to $970. The price variation depends on the precise level and type of testing used. The options shown are as follows; the variations relate to the “depth” of the sequencing done to further minimize the chances of an error:
BI-DIRECTIONAL SANGER SEQUENCINGTest NumberTestPriceCPT Code1176BAP1 Sanger Sequencing$97081479100BAP1 Targeted Familial Mutations – Single Exon Sequencing$25081479200BAP1 Targeted Familial Mutations – Double Exon Sequencing$37081479300BAP1 Targeted Familial Mutations – Triple Exon Sequencing$44081479