How Is Aarskog-Scott Syndrome Diagnosed?
There are several laboratories worldwide that offer a genetic analysis service that is specific for Aarskog-Scott Syndrome. Typically, the person to be analyzed is either:
(1) an already-born individual or a fetus who is suspected of having Aarskog-Scott Syndrome; or
(2) a woman who, based on family history, is at risk of carrying a copy of a mutated version of the FGD1 gene (and therefore may be at risk of having a child affected by the disorder).
In such analysis, these laboratories obtain a body sample (such as saliva or blood) from the person who is to be tested and then, through a series of chemical events, determine on a nucleotide-by-nucleotide basis the sequence of the only, or each, copy of the individual's FGD1 gene.
Once this analysis is complete, the results are sent to the individual's health care provider. The provider then discusses the significance of the findings with the individual and/or individual's kin. Oftentimes, the health care provider will work in conjunction with a genetic counselor in conveying this important diagnostic information and what it means to the individual.