Associated disorders

The FBXO7 gene is associated with autosomal recessive Parkinson disease 15 (PARK15) (MedGen UID: 337969).

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Invitae tests that include this gene:

FBXO7 encodes a component of a Skp, Cullin, F-box containing complex which is a E3 ubiquitin protein ligase. These ligases help to perform phosphorylation-dependent ubiquitination which plays an important role in protein degradation. Disruption of this pathway has been implicated in neurodegeneration disorders such as Parkinson disease.

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
FBXO7 NM_012179.3