Aortopathy Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR54869Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2006540CPT Codes 81410, 81411

Aortopathy Panel, Sequencing and Deletion/Duplication

Also known as: AORT PANEL

Clinical Use

Order Test

Use

The Aortopathy Panel, Sequencing and Deletion/Duplication is designed to detect pathogenic variants associated with aortopathy disorders, which are characterized by aortic aneurysms, dissections, or ruptures. This panel is particularly useful for individuals displaying a clinical phenotype of aortic or vascular aneurysm, dissection, or rupture when no specific diagnosis is strongly suspected. It evaluates genes known to be linked with conditions such as thoracic aortic aneurysm and dissection (TAAD), Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and other related syndromic forms.

Special Instructions

The test is not approved in New York State, so specimens from New York clients will need to be sent out to a New York state-approved laboratory. Informed consent for genetic testing is required, particularly for NY patients. Additional technical information is available regarding genes with certain coverage limitations.

Limitations

A negative result does not exclude the possibility of a heritable aortopathy condition. The test primarily detects variants within coding regions and intron-exon boundaries. Deletions, duplications, and insertions may not always be detected, especially in regulatory and deep intronic regions. Certain exons may not be covered by sequencing due to technical limitations, and single exon deletions/duplications may be undetected. The test is not designed to detect low-level mosaicism, somatic variants, complex genomic rearrangements including translocations, or mitochondrial DNA mutations.

Test Details