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  • Test code: 02211
  • 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 Long QT Syndrome Panel

Test description

This test is for individuals with a clinical diagnosis of long QT syndrome (LQTS). The primary Invitae Long QT Syndrome panel includes genes that are definitively associated with LQTS or other inherited arrhythmia disorders that may present with clinical features similar to LQTS.

Individuals with clinical symptoms of LQTS may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known LQTS pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.

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Primary panel (10 genes)

CACNA1C CALM1 CALM2 CALM3 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A TRDN

Add-on Preliminary-evidence Genes for Long QT Syndrome (7 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.

AKAP9 ANK2 CAV3 KCNE2 KCNJ5 SCN4B SNTA1

Alternative tests to consider

  • Long QT syndrome
  • Timothy syndrome
  • Andersen-Tawil syndrome
  • Jervell and Lange-Nielsen syndrome (JLNS)

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

Long QT syndrome, Timothy syndrome, and Andersen-Tawil syndrome are autosomal dominant disorders. Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder.

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
AKAP9 NM_005751.4
ANK2 NM_001148.4
CACNA1C* NM_000719.6; NM_001129840.1
CALM1 NM_006888.4
CALM2 NM_001743.4
CALM3 NM_005184.2
CAV3 NM_033337.2
KCNE1 NM_000219.5
KCNE2 NM_172201.1
KCNH2 NM_000238.3
KCNJ2 NM_000891.2
KCNJ5 NM_000890.3
KCNQ1 NM_000218.2
SCN4B NM_174934.3
SCN5A NM_198056.2
SNTA1 NM_003098.2
TRDN NM_006073.3

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