Pathology Test Details

Item Details
Laboratory Victorian Clinical Genetics Services : Reproductive Genetic Testing, Genetics & Genomics, and Biochemical Genetic Laboratories - VIC
Test Name Aortopathy
Genes Tested ACTA2,CBS,COL1A1,COL3A1,COL5A1,FBN1,FBN2,FLNA,MED12,MYH11,MYLK,SKI,SLC2A10,SMAD3,TGFB2,TGFBR1,TGFBR2
Test Description Aortopathy are conditions that affect the aorta, the main artery supplying the heart with oxygenated blood. The aorta can become enlarged or weakened, which disrupts blood flow. Aortic dilation can be a key feature in genetic dosorders, such as Marfan, Loeys-Dietz, vascular Ehlers-Danlos, aneurysm-osteoarthritis, TAAD, and Turner syndrome.
Method NGS
Test Type Panel
Comment Patient to be referred to a cardiologist or a genetics clinic.
Test Accreditation Included In NATA Scope
Clinical Context Heritable variants, Prenatal test
Sample Required EDTA blood: Adult: 2 x 5 ml, Child: 2 x 1-3 ml
Turn Around Time 10-12 weeks
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 3/07/2017 11:51:10 AM
03-Jul-2017
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25-Jan-2019
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