Test Directory

Test Code
C6012
Test Name
Brugada Syndrome NGS Panel
CPT Codes
81407
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of Brugada syndrome. Brugada syndrome is a cardiac channelopathy characterized by specific ECG abnormalities such as ST-segment elevation in the right precordial leads and incomplete right bundle-branch block. Typical findings include ventricular fibrillation, syncope and cardiac arrest. Brugada syndrome is associated with high risk of sudden cardiac death in otherwise healthy young adults. The age-of-onset is usually in the adulthood, however, sudden infant death syndrome is one of the clinical presentations. Recommended for individuals with a personal and/or family history of Brugada syndrome to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
BRGDA1
Description
Brugada syndrome is a cardiac channelopathy characterized by specific ECG abnormalities such as ST-segment elevation in the right precordial leads and incomplete right bundle-branch block. Typical findings include ventricular fibrillation, syncope and cardiac arrest. Brugada syndrome is associated with high risk of sudden cardiac death in otherwise healthy young adults. The age-of-onset is usually in the adulthood. However, sudden infant death syndrome is one of the clinical presentations.
Testing Schedule
Monday-Friday
Genes
SCN5A
MIM
113900, 601144, 601154, 603829, 603830, 608567, 614022
Disease Group
Cardiovascular Disorders