Arrhythmias: Deletion/Duplication Panel

Condition Description

Arrhythmia is any change from the normal sequence of electrical impulses of the heart. These impulses may happen too fast (tachycardia), too slowly (bradycardia), or erratically. Types of arrhythmias include atrial fibrillation, conduction disorders, premature contraction, ventricular fibrillation, tachycardia, and bradycardia. Arrhythmias can present with a broad spectrum of symptoms including palpitation, a fluttering sensation, fatigue, dizziness, lightheadedness, syncope, rapid heartbeat, shortness of breath, chest pain, and sudden cardiac arrest.

  • American Heart Association
  • OMIM

Genes (29)

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


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.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. 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 (
Submit only 1 of the following specimen types
DNA, Isolated

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)

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.
  • Comprehensive Cardiovascular: Sequencing Panel (MCAR1)
  • Arrhythmias: Sequencing Panel

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