• 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 AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). AKT1 is also associated with Proteus syndrome (PS) (MedGen UID: 39008). PS is an overgrowth condition caused by postzygotic, acquired pathogenic variants in the AKT1 gene (PMID: 22876373). Features include progressive, segmental or patchy overgrowth typically affecting the skeleton, skin, adipose and central nervous system (PMID: 22876373). Because affected individuals are mosaic (that is, while the causative variant may be present in some cells, it may be absent from others), testing for PS by blood is not recommended.

Analysis of gDNA derived from skin (particularly a sample from affected tissue) has a higher detection rate than DNA from blood (PMID: 22876373). Failure to detect an AKT1 pathogenic variant does not exclude a clinical diagnosis in affected individuals due to the possibility of undetected mosaicism (PMID: 22876373).

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Invitae tests that include this gene:

The AKT1 gene is an oncogene that encodes a serine/threonine-protein kinase involved in regulating many processes, including metabolism, proliferation, cell survival, and angiogenesis.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
AKT1 NM_005163.2