• Test Code:
    1090
  • Department:
    Molecular Genetics
  • Test Synonyms:
    CACNA1CCACNB2GPD1LHCN4KCNE3SCN1BSCN3BSCN5ATRPM4
  • CPT Code(s):
    81407
Background:

The inherited arrhythmias comprise a group of genetically heterogeneous diseases Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Long QT Syndrome, and Short QT Syndrome.  These disorders have an impact across all age groups. 

Brugada syndrome is a cardiac conduction abnormality that can lead to ventricular arrhythmia, syncope, seizures, difficulty breathing, or sudden death.  The prevalence of Brugada syndrome is currently unknown. This next-generation sequencing test is designed to detect mutations in the coding region of 9 genes associated with Brugada Syndrome.

Reasons for Referral:

  • Presence of arrhythmia.
  • Clinical presentation consistent with Brugada syndrome.
  • Positive family history for arrhythmia (targeted testing is available if familial mutation is known).
  • Carrier testing.

Methodology:

Next generation sequencing will analyze the exons or coding regions of 9 Brugada-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 9 Brugada associated genes are listed below:
CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene Saliva Kit(s) (OGR-500)
Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen.
  • Ship via overnight express, using the FedEx priority overnight label provided.
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. GeneReviews:Brugada et al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1517/
  2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/brugada-syndrome

Additional Info: