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
Requery (SOQO)
≤ 5 days
Genes Tested
29
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.
Order This Test
Contact our clinical team to order this panel or learn more.
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 notes
FOXE3: Analysis begins at chr1:47416567 (GRCh38) and excludes the first quarter of exon 1. TGFBR1: Analysis for exon 1 will not be performed.
Genomic build
GRCh38
Genes Tested
29 genes included in this panel
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
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.
Ready to order this test?
Contact our clinical team to order the Aortopathies Panel for your patients.