• Test Code:
    1004 (now 1240)1240
  • Department:
  • Test Synonyms:
    Andermann syndromeL1CAM disordersFull Gene(s) Analysis
  • CPT Code(s):
    Contact KDL for billing information
Background:

Disorders causing brain malformations are phenotypically heterogeneous; mutations in certain genes have been associated inherited conditions causing brain developmental issues. Agenesis of the corpus callosum is a birth defect where structural tissues bridging the two hemispheres of the corpus callosum are malformed or missing. This sequencing panel tests for syndromic forms of agenesis of the corpus callosum including Andermann syndrome and L1CAM-disorders. These conditions can be X-linked as well as autosomal recessive or dominant.

Reasons for Referral:

  • Suspected genetic etiology of a brain malformation.
  • Carrier testing
  • Positive family history
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

The 4 Agenesis of the Corpus Callosum -associated genes are listed below:
ARX, L1CAM, MRPS16, SLC12A6

Methodology:

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Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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