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.
6-21 days
≤ 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.
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Our team is available Monday through Friday, 9am-5pm Pacific Time.
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
> 99%
> 99%
> 99%
> 99%
> 90%
FOXE3: Analysis begins at chr1:47416567 (GRCh38) and excludes the first quarter of exon 1. TGFBR1: Analysis for exon 1 will not be performed....
GRCh38
Genes Tested
Showing 25 of 29 genes in this panel