IEOM Tests Offered
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)
