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Aortopathies Panel

A 29-gene panel for evaluating inherited aortopathy, including thoracic aortic aneurysms and dissections (TAAD) and Marfan Syndrome, powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

This panel evaluates 29 genes associated with inherited aortopathy and related conditions. Genes included are associated with isolated thoracic aortic aneurysms and dissections (TAAD), Marfan Syndrome, and conditions which may include aortopathy as one feature.

View the complete description of this panel

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A relevant personal and/or family history suggestive of an inherited aortopathy.

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 inherited aortopathy and related conditions.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesFOXE3: Analysis begins at chr1:47416567 (GRCh38) and excludes the first quarter of exon 1. TGFBR1: Analysis for exon 1 will not be performed.Genomic buildGRCh38

Genes Tested

ACTA2
ADAMTS10
BGN
CBS
COL3A1
COL5A1
COL5A2
EFEMP2
FBN1
FBN2
FLNA
FOXE3
LOX
MED12
MFAP5
MYH11
MYLK
NOTCH1
PLOD1
PRKG1
SKI
SLC2A10
SMAD2
SMAD3
SMAD4

Showing 25 of 29 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 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.


Aortopathies refer to a group of genetic disorders that affect the structure and function of the aorta. The genes on this panel include those associated with isolated thoracic aortic aneurysms and dissections (TAAD) as well as syndromic genetic conditions that may include aortopathy as part of the spectrum of disease, such as Marfan syndrome, Loeys-Dietz syndrome or Ehlers-Danlos syndrome.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.