X-Inactivation Analysis NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

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

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  • Rush / STAT
2 - 3 weeks
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Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
CPT Code 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.