• 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



KIR6.1; uKATP-1

Associated disorders

The KCNJ8 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Additionally, the KCNJ8 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528).

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Invitae tests that include this gene:

Pathogenic KCNJ8 variants are associated with an unknown percentage of clinical cases of BrS.

The KCNJ8 gene encodes the potassium inwardly rectifying channel, subfamily J, member 8. The electrical activity of muscle is controlled by the movement of potassium, sodium, and calcium ions across the cardiac muscle cells. Pathogenic variants in genes that encode potassium channels or subunits are a common cause of inherited cardiac arrhythmias.

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
KCNJ8 NM_004982.3