Associated disorders

The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

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The percentage of dyskeratosis congenita attributed to pathogenic variants identifed in NOP10 is less than 1%.

The NOP10 gene encodes for the H/ACA ribonucleoprotein complex subunit 3 that is involved in the processing and modification of ribosomal RNA. This type of small nucleolar ribonucleoprotein is also a component of the telomerase complex that is needed for maintaining the telomeres.

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
NOP10 NM_018648.3