CARNITINE PALMITOYLTRANSFERASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Carnitine Palmitoyl Transferase Deficiency Panel analyzes two genes involved in the transport and mitochondrial β-oxidation of long-chain fatty acids, a process essential for energy production, especially in muscle and liver. Alterations in CPT1A and CPT2 cause metabolic disorders characterized by hypoketotic hypoglycemia, muscle weakness, myalgia, recurrent rhabdomyolysis, and, in severe cases, liver failure or cardiomyopathy. The hepatic form (due to mutations in CPT1A) primarily affects energy regulation during fasting, while the muscular form (due to mutations in CPT2) presents with symptoms induced by exercise or stress. This panel uses next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs for a comprehensive evaluation of both forms of the disease. Genes included: CPT1A and CPT2.
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