ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Adenosine Monophosphate Deaminase Deficiency panel analyzes two genes involved in muscle and erythrocyte energy metabolism. Alterations in these genes lead to a deficiency in the conversion of AMP to IMP, affecting energy production during physical exertion. AMPD1 deficiency is primarily associated with metabolic myopathies characterized by exercise intolerance, cramps, muscle fatigue, and, in some cases, rhabdomyolysis. On the other hand, variants in AMPD3 can cause mild or asymptomatic hematological abnormalities by affecting the erythrocyte enzyme. This panel uses next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs for the precise identification of mutations in these key purine nucleotide cycle genes. Genes included: AMPD1 and AMPD3.
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