GeneSeq® Cardio: Familial Aortopathy Panel

Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Whole blood: 14 days at room temperature or 30 days at 4°C

Buccal: 60 days at room temperature

Saliva: 60 days at room temperature

This test is used for diagnostic testing for aortopathy, including isolated thoracic aortic aneurysm and dissection, and aortopathies seen in multisystem syndromes, including Marfan syndrome, Loeys-Dietz syndrome and vascular-type Ehlers-Danlos syndromes. It is also used for presymptomatic testing for family members.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).