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Aortopathy Deletion/Duplication, 21 Genes
2006546
Ordering Recommendation

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.

Mnemonic
AORT DD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-4 weeks
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
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
Refrigerated. 
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Aortopathy Disorders with the Electronic Packing List. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By Report
Interpretive Data
Refer to report.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Genes tested: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, PLOD1, PLOD3, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Components
Component Test Code*Component Chart NameLOINC
2006547Aortopathy Deletion/Duplication Specimen
2006548Aortopathy Del/Dup Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • 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