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Long and Short QT Syndrome: Deletion/Duplication Panel

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Condition Description

Long QT syndrome (LQTS) is characterized by a QT interval that is prolonged on the surface electrocardiogram and a predisposition to early after depolarizations and torsades de pointes. LQTS can present clinically with palpitations, presyncope, syncope, or sudden cardiac death.

Short QT syndrome (SQTS) is characterized by an abnormally short QT interval and susceptibility to both ventricular tachyarrhythmias and atrial fibrillation.

References:
  • Dolmatova et al. (2013). Curr Cardiol Rep, 15:389.
  • OMIM

Genes (12)

AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of Long QT syndrome (LQTS) and Short QT syndrome (SQTS).
  • Carrier testing in adults with a family history of Long QT syndrome (LQTS) and Short QT syndrome (SQTS).

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Comprehensive Cardiovascular: Sequencing Panel
  • Comprehensive Cardiovascular: Deletion/Duplication Panel
  • Long and Short QT Syndrome: Sequencing Panel
     

How to Order

Requisition Forms