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)