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  • Test code: 02214
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Short QT Syndrome Panel

Test description

This test is for individuals with a clinical diagnosis of short QT syndrome (SQTS). The panel includes genes that are definitively associated with SQTS or other inherited arrhythmia disorders that can present with clinical features similar to SQTS.

Individuals with clinical symptoms of SQTS may benefit from diagnostic genetic testing to confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known SQTS pathogenic variant may also benefit, as testing may clarify their own personal risk of developing SQTS or inform medical management.

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Primary panel (3 genes)
Add-on Preliminary-evidence Genes for Short QT Syndrome (3 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

CACNA1C CACNA2D1 CACNB2

Alternative tests to consider

  • Short QT syndrome

To view the complete clinical description of this panel, click here.

Short QT syndrome is an autosomal dominant condition.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CACNA1C* NM_000719.6; NM_001129840.1
CACNA2D1 NM_000722.3
CACNB2 NM_201590.2
KCNH2 NM_000238.3
KCNJ2 NM_000891.2
KCNQ1 NM_000218.2

CACNA1C: Deletion/duplication and sequencing analysis is not offered for exons 44-45.