Gender and sex discordance in genetic testing: Mayo Clinic Genomics Laboratory experience

A patient’s sex chromosome complement plays an important role in clinical genetic testing, analysis, and reporting. However, there are inconsistencies and deficiencies in the documentation of gender and sex in many laboratory information systems. Gender is a cultural construct referring to one’s deeply felt sense of identity as male, female, or not fitting within either binary category. Whereas sex is a biological construct referring to multiple characteristics, including sex chromosome complement, external anatomy, and hormone production/level and response (phenotype).