Associated disorders

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 347910).

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Invitae tests that include this gene:

Primary cilia sense the extracellular environment and transmit signals into the cell for proper organ development and embryonic patterning. These cilia consist of a basal body, a transition zone, and an axoneme composed of nine peripheral microtuble doublets. Disruption of cilia function can lead to a variety of diseases associated with brain, kidney, lung, eye, digital, and/or facial anomalies. The BBS12 gene encodes a protein that helps assemble the essential BBSome protein complex, and pathogenic variants in this gene lead to defects in vesicle trafficking and dysfunctional cilia.

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
BBS12 NM_152618.2