GLUTARIC ACIDEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Glutaric Acidemia Panel studies eight genes associated with inborn errors of organic acid metabolism, characterized by the accumulation of glutaric acid and its derivatives, which cause neurological damage, hypotonia, dystonia, and motor delay. It includes glutaric acidemia type I (GCDH) and type II (ETFA, ETFB, ETFDH), as well as less frequent variants in D2HGDH, L2HGDH, LIAS, and SUGCT. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies alterations in mitochondrial enzymes involved in the degradation of lysine, hydroxylysine, and tryptophan. Some of the genes included in this panel are GCDH, ETFA, ETFB, ETFDH, D2HGDH, and L2HGDH, among others. The complete list of genes can be obtained by contacting Genotica.
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