Panel Description

X-Linked Conditions

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.
This testing is targeted toward females with apparent signs of X-linked recessive disorders to determine skewing of X-inactivation.
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.

Test Description

  • Rush / STAT
2 – 3 weeks
Call for details
Call for Details
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)