• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Andermann syndrome • L1CAM disorders
  • 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:

Specimen Requirements:

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Additional Info:

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