• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 322251) and autosomal dominant amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) (MedGen UID: 462753).

Pathogenic variants in VCP are the only known cause of inclusion body myopathy with Paget disease of bone with or without frontotemporal dementia.

The VCP gene encodes the valosin-containing protein, a multifunctional ATPase that has been associated with a variety of cellular pathways including protein trafficking, cell cycle regulation, and apoptosis.

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
VCP NM_007126.3