Molecular Genetics Fatty Acid Oxidation Deficiency Panel

Fatty acid oxidation is a metabolic process allowing for cells to utilize fats as an energy source instead of glucose. Mutations in genes encoding the cellular machinery for fatty acid oxidation can be clinically heterogeneous, but biochemical tests are carried out during newborn screening to assess sets of metabolic markers for fatty acid oxidation deficiency. Patients may present with hypoglycemia, abnormality of liver, cardiomyopathy, and muscle weakness. This next-generation sequencing panel tests the coding regions for 22 genes associated with fatty acid oxidation deficiency.

Reasons for Referral:

• Abnormality in newborn screening
• 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.

Fatty Acid Oxidation Deficiency (22 genes):
ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, SLC22A5, SLC25A20, TAZ