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)

Genes Included in MetaboSeq Panel

ACAD9

CPT1A

ETFDH

HADHB

SLC22A5

ACADM

CPT2

GLUD1

HMGCL

SLC25A20

ACADS

ETFA

HADH

HSD17B10

TAZ

ACADVL

ETFB

HADHA

PPARG