Fatty Acid Oxidation Disorders Diagnostic Testing Program

About MetaboSeq

Comprehensive analysis of multiple genes with MetaboSeq will be useful in cases where a specific disorder cannot be pinpointed using biochemical testing, clinical symptomatology (which may exhibit overlapping phenotypes) or traditional single-gene molecular testing. 

MetaboSeq provides a rapid and cost-effective analysis of the most common genetic causes of FAO defects for patients who have:

• An abnormal newborn screen (which does not indicate a specific disorder or leads to genetic testing for a specific syndrome with a negative result)
• Unexplained neonatal hypoglycemia
• Nonspecific FAO defects symptoms (lethargy, vomiting, liver failure, cardiomyopathies, recurrent maternal acute fatty liver of pregnancy)