Brugada Syndrome: Deletion/Duplication Panel

Condition Description

Brugada syndrome is characterized by cardiac conduction abnormalities. These cardiac abnormalities can result in sudden death. Often features such as syncope and/or arrhythmias present in adulthood; however, the age of diagnosis ranges from two days to 85 years. Pathogenic variants in eight genes are known to cause Brugada syndrome. Only 25% of individuals with Brugada syndrome have an identifiable pathogenic variant in one of the eight genes known to cause it. Most individuals with Brugada syndrome have an affected parent but approximately 1% of cases are the result of a de novo pathogenic variant.

Reference:
  • GeneReviews

Genes (8)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of Brugada syndrome.
  • Carrier testing in adults with a family history of Brugada syndrome.

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

When sample fails to meet the acceptable criteria, 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
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.
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 24 hours of collection. Do not refrigerate or freeze.
  • Brugada Syndrome: Sequencing Panel
  • Comprehensive Cardiovascular: Sequencing Panel
  • Comprehensive Cardiovascular: Deletion/Duplication Panel

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