Associated disorders

The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1 (MedGen UID: 766363).

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Invitae tests that include this gene:

EXOSC3 encodes a non-catalytic core component of the human RNA exosome complex, an evolutionary conserved complex involved in RNA metabolism. The RNA exosome complex participates in the processing and degradation of RNA, processes that are important for the regulation of gene expression.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
EXOSC3 NM_016042.3