Fatty Acid Oxidation Disorders Diagnostic Testing Program

Tests Offered

The Fatty Acid Oxidation Disorders (FAOD) Diagnostic Testing Program at Cincinnati Children’s offers comprehensive diagnostic testing of patients suspected of having a FAOD. Clinical genetic testing is performed by the Molecular Genetics Laboratory, which is CAP and CLIA certified.

Which Test to Order?

> Download “A Guide for Clinicians: Comprehensive Molecular Testing for Fatty Acid Oxidation Disorders”

Tests Currently Offered

• CPT2 deficiency: CPT2 gene sequence analysis
• LCHAD deficiency: HADHA E510Q genotype analysis
• MetaboSeq: 19-gene next-generation sequencing panel
• MCAD deficiency: ACADM  gene sequence analysis
• Primary carnitine deficiency:  SLC22A5 gene sequence analysis
• VLCAD deficiency: ACADVL gene sequence analysis