FATTY ACID OXIDATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 47 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Fatty Acid Oxidation Syndrome panel analyzes 47 genes involved in inherited disorders of mitochondrial energy metabolism, responsible for defective fatty acid breakdown and impaired cellular energy production. These diseases manifest as hypoketotic hypoglycemia, myopathy, cardiomyopathy, encephalopathy, liver failure, or rhabdomyolysis, especially during periods of fasting or metabolic stress. The analyzed genes encode essential enzymes and transporters for mitochondrial β-oxidation, carnitine transport, and cellular energy regulation. Among the most relevant genes are ACADM (medium-chain acyl-CoA dehydrogenase deficiency), ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, and SLC22A5, which are implicated in the main defects of fatty acid oxidation. This next-generation sequencing (NGS) study detects pathogenic variants and CNVs associated with multiple clinical forms, both mild and severe. You can obtain the complete list of genes by contacting Genotica.
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