• 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



AAT8; PKG; PRKG1B; PRKGR1B; cGK; cGK 1; cGK1; cGKI; cGKI-BETA; cGKI-alpha

Associated disorders

The PRKG1 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 815843).

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Invitae tests that include this gene:

Pathogenic PRKG1 variants are a rare cause of thoracic aortic aneurysm and dissection.

The PRKG1 gene encodes the cGMP-dependent protein kinase type I (PKG-1), which on activation controls the relaxation of the smooth muscle cells. PRKG1 play a central role in regulating cardiovascular and neuronal functions, relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth.

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
PRKG1 NM_006258.3