Preferred panel for individuals with clinical phenotype of aortic/vascular aneurysm, dissection, or rupture.
- Patient Preparation
- Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Submit the Patient History Form for Aortopathy Disorders with the Electronic Packing List.
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2006541||Aortopathy Panel Specimen|
|2006544||Aortopathy Panel Interpretation|
- 2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication
- 2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
- 2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
- ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK
- PLOD1, PLOD3, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2