LIPID METABOLISM DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 63 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Lipid Metabolism Deficiency Panel analyzes 63 genes involved in inherited disorders affecting the synthesis, transport, and degradation of fatty acids, triglycerides, and other essential lipids. These disorders can manifest as hypoketotic hypoglycemia, hepatomegaly, myopathy, cardiomyopathy, fasting intolerance, or progressive neurological involvement. The panel covers a broad spectrum of metabolic diseases, including mitochondrial β-oxidation defects (ACADM, ACADVL, HADHA, HADHB, CPT1A, CPT2, SLC25A20), fatty acid synthesis or elongation disorders (ACACA, ACACB, ELOVL4, FASN), ketone body metabolism disorders (HMGCL, HMGCS2, OXCT1), and lipid transport and storage defects (SLC22A5, LIPE, PNPLA2, FABP1). Using next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs, this study detects pathogenic variants responsible for clinical conditions of muscular, hepatic, or systemic dysfunction related to lipid metabolism. Some of the genes included in this panel are: ACADM, ACADVL, CPT1A, CPT2, HADHA, HADHB, SLC22A5, SLC25A20, HMGCL, HMGCS2, and LIPE, among others. For a complete list of genes, please contact Genotica.
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