Supportive Data

Validation studies done at Mayo Clinic on a series of known fertile and infertile specimens provided the following results. Of 111 DNA specimens from known fertile men, 110 gave unequivocal negative results demonstrating clinical specificity of 99%. A series of 19 specimens from females (negative controls) were all negative, as expected. In a small series of specimens from 4 men being treated for male factor infertility, no deletions were found (which may be expected given a reported prevalence of 7% for microdeletions in unselected male infertility patients). Seven specimens were mailed in from outside laboratories (3 of which were sent as part of an external quality assessment scheme organized by the European Academy of Andrology) with known deletions in either AZFa, AZFb, or AZFc. Using this assay, all were diagnosed correctly to give an analytical sensitivity of 100%.