• 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



ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1

Associated disorders

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).

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Invitae tests that include this gene:

Pathogenic KCNH2 variants and are associated with ~35% of clinical cases of LQTS. They are also a rare cause of SQTS and are associated with an unknown percentage of clinical cases of BrS.

The KCNH2 gene encodes the potassium voltage-gated channel subfamily H (eag-related) member 2. The electrical activity of cardiac muscle is controlled by the movement of potassium, sodium and calcium ions across cardiac muscle cell membranes. Mutations in genes that encode potassium channels 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
KCNH2 NM_000238.3; NM_172057.2