List of diseases covered by
Fatty Acid Oxidation Disorder NGS panel

Gene Condition
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADVL VLCAD deficiency
CPT1A CPT deficiency, hepatic, type IA
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
GLUD1 Hyperinsulinism-hyperammonemia syndrome
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA Fatty liver, acute, of pregnancy; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HSD17B10 HSD10 mitochondrial disease
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
PPARG Carotid intimal medial thickness 1;
Lipodystrophy, familial partial, type 3; Obesity, severe
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
TAZ Barth syndrome