• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Intrahepatic cholestasis • Citrin deficiency • Alagille syndrome
  • CPT Code(s):
    Contact KDL for billing information
Background:

Gluconeogenesis disorders are a set of conditions which initiate or involved in glucose production for energy metabolism. Disruption in these biochemical pathways include neurological disorders, failure to thrive, and elevated lactate levels. This next-generation sequencing test assesses the coding regions in four genes associated to gluconeogenesis disorders. These conditions are inherited in an autosomal recessive pattern.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Carrier testing
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.Methodology

Gluconeogenesis disorders panel (4 genes): 
ALDOB, FBP1, GYS2, PC

Methodology:

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