HELIX DIAGNOSTICS
Aortopathies Panel
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.
Note: This panel currently requires an EHR integration to order.
Genes Tested (29)
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Important Panel Information
Turnaround time: 7-24 days
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.