• Test Code:
    1465
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Intrahepatic cholestasisCitrin deficiencyAlagille syndromeALDOBFBP1GYS2PC
  • CPT Code(s):
    8140681479
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

Methodology:

Next generation sequencing will analyze the exons or coding regions of 4 associated genes with gluconeogenesis disorders using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

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

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info: