Overview

Test Name

Aortopathy Panel

Test Code

CAE1016

Test Category

Gene Panels

Test Subcategory

Cardiology

Disease(s) Targeted

Aortopathy

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of an aortopathy.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. Of Genes

Panel Content

ABL1, ACTA2, ARIH1, ASPH, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FOXE3, FLNA, IPO8, LOX, LTBP3, MFAP5, MYH11, MYLK, NOTCH1, PMEPA1, PLOD1, PRKG1, SECISBP2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Aortopathy

Aortopathies are a group of disorders affecting the aorta, the largest artery in the body that carries blood from the heart to the rest of the body. These conditions can lead to a weakening, dilation (aneurysm), or tearing (dissection) of the aorta, posing serious health risks.

Some patients with an aortopathy may have a gene variant that predisposes to the development of the aortopathy which may or may not be part of a syndrome such as Marfan or Loeys-Dietz Syndrome.