GLOBAL HEREDITARY ATAXIAS: CLINICAL EXOME PANEL (Sec. & CNVs) – 374 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Global Hereditary Ataxias Panel analyzes 374 genes associated with neurodegenerative disorders characterized by the progressive loss of balance, coordination, and motor control, which can present in autosomal dominant, recessive, or X-linked patterns. This panel covers a broad spectrum of conditions, including spinocerebellar ataxias (SCA), congenital ataxias, mitochondrial ataxias, ataxias with peripheral neuropathy, episodic ataxias, and complex syndromes with multisystem involvement. Through next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for the identification of pathogenic variants in genes involved in mitochondrial function, synaptic integrity, energy metabolism, DNA repair, and neuronal signaling. Among the most relevant genes are ATXN1, ATXN2, ATXN3, ATM, APTX, CACNA1A, SACS, FXN, POLG, COQ8A, SPG7, SYNE1, TDP1, and PNKP, among others. This study is a comprehensive diagnostic tool that facilitates the differential diagnosis between the various forms of hereditary ataxia, contributing to clinical guidance, genetic counseling, and personalized treatment planning.
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