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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

A 7-gene panel for assessing hereditary CPVT, powered by the Helix Exome+® platform for superior coverage of arrhythmia-related variants.

Turnaround

6-21 days

Requery (SOQO)

≤ 5 days

Genes Tested

7

Panel Description

Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.

Order This Test

Contact our clinical team to order this panel or learn more.

(855) 699-1933
clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal and/or family history suggestive of a hereditary form of catecholaminergic polymorphic ventricular tachycardia. Establishing a diagnosis of catecholaminergic polymorphic ventricular tachycardia.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary forms of catecholaminergic polymorphic ventricular tachycardia (CPVT).

Technical Specifications

Analytical sensitivity (SNV)

> 99%

Analytical sensitivity (indel)

> 99%

Analytical specificity

> 99%

CNV sensitivity (multi-exon)

> 99%

CNV sensitivity (single-exon)

> 90%

Gene notes

TRDN: Evaluation of Chr6:123636725 (c.22+29A>G) will be performed

Genomic build

GRCh38

Genes Tested

7 genes included in this panel

TECRLCALM1CALM2CALM3CASQ2RYR2TRDN

Ordering Information

Turnaround Time

Typically 6-21 days (standard), Typically ≤ 5 days (requery)

Preferred Specimen

BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping Instructions

Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Clinical Description

Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.

This panel evaluates 7 genes that have an established, primary association with hereditary catecholaminergic polymorphic ventricular tachycardia (CPVT).

Ready to order this test?

Contact our clinical team to order the Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel for your patients.