BILATERAL STRIATO-PALLID-DENTATE CALCINOSIS / FAHR'S DISEASE: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Bilateral Striato-Pallido-Dentate Calcinosis (Fahr's Disease) panel analyzes 11 genes associated with idiopathic bilateral brain calcifications, primarily affecting the basal ganglia, thalamus, cerebellum, and white matter. These alterations can manifest as movement disorders (parkinsonism, dystonia, chorea), cognitive impairment, psychiatric disorders, seizures, or extrapyramidal symptoms. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of mutations in genes related to phosphate homeostasis, endothelial function, PDGF signaling, and immune and antiviral response mechanisms—key elements in the pathogenesis of hereditary brain calcifications. Among the most relevant genes included are SLC20A2, PDGFRB, PDGFB, SAMHD1, and TREX1, among others. You can consult the complete list of genes by contacting Genotica.
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