At a certain point in development, females no longer require gene expression from both X chromosomes. Typically, one X chromosome is randomly selected to be silenced. When silencing is non-random, X-inactivation is skewed. Females with skewed X-inactivation and a pathogenic mutation in an expressed X-linked gene can develop X-linked related conditions.
Who is this test for?
This testing is targeted toward females with apparent signs of X-linked recessive disorders to determine skewing of X-inactivation.
What are the potential benefits for my patient?
This test is used to determine a patient's X-chromosome inactivation pattern (random or skewed), which can assist in the evaluation of suspicious or diagnostic findings that do not show expected segregation patterns.