GeneSeq® Cardio: Familial Aortopathy Panel

Casandra

Casandra Test Code LC57896Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 482189CPT Codes 81410, 81411

GeneSeq® Cardio: Familial Aortopathy Panel

Also known as: Aortic dilation, Loeys-Dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm and dissection, Vascular-type Ehlers-Danlos syndrome

Clinical Use

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Use

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.

Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases with a known family variant, physicians may opt for the GeneSeq® Cardio Targeted Variant Analysis [485208].

Limitations

This test may not detect germline mosaicism or large chromosomal aberrations including rearrangements and gene fusions. It also may not identify variants in genes not included, or inter/intragenic interactions. Variant classification/interpretation may change with new information. Possible reasons for incorrect results include rare genetic variants, sex chromosome anomalies, pseudogene interference, blood transfusions, bone marrow transplants, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous family relationship representation. This test has not been cleared or approved by the FDA.

Test Details