The Inborn Errors of Metabolism (IEOM) 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. 

Panels

• Elevated C16 Gene Sequencing Panel (CPT2 and SLC25A20)
• Glycogen Storage Disease Gene Sequencing Panel
• GSD type I Gene Sequencing Panel (G6PC and SLC37A4)
• LCHAD/TFP Gene Sequencing Panel (HADHA and HADHB)
• Metaboseq Gene Sequencing Panel
• Riboflavin Disorders Gene Sequencing Panel

Single Gene Sequencing

• ACADM (MCAD deficiency)
• ACADVL (VLCAD deficiency)
• ALDOB (Hereditary Fructose Intolerance)
• GAA (Pompe disease)
• CPT2 (CPT II deficiency)
• SLC22A5 (Primary carnitine deficiency)