This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
- 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
|Component Test Code*||Component Chart Name||LOINC|
|2006547||Aortopathy Deletion/Duplication Specimen|
|2006548||Aortopathy Del/Dup Interpretation|
- 2002701 Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing & Deletion/Duplication
- 2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplicat
- 2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
- ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK
- PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2