Exome targeting ataxias
"Exome sequencing is a massive sequencing method or next-generation sequencing that allows the coding region of more than 20,000 human genes to be sequenced accurately in a single experiment. Subsequent targeted analysis of the ATAXIA EXOME allows for the efficient identification of coding variants associated (including triplet repeats) with this spectrum of diseases.
Therefore, exome sequencing is a highly efficient strategy from a diagnostic perspective, both reliable and rapid. Furthermore, the data obtained can be analyzed in the future to clarify the role of variants of uncertain significance and to identify the causes of new clinical phenotypes.
Our service includes a results report and genetic counseling (before and after).
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Delivery time
9 weeks
Sample
Blood
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