Aortopathy Panel, Sequencing and Deletion/Duplication, 17 Genes
2006540
Ordering Recommendation
Preferred panel for individuals with clinical phenotype of aortic/vascular aneurysm, dissection, or rupture.
Mnemonic
AORT PANEL
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
10-12 weeks  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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
  
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81405 x4  (ACTA2; SMAD4; TGFRB1; TGFRB2), 81406 x2  (CBS; SMAD4), 81408 x2  (FBN1; MYH11), 81479 x2
Components
Component Test Code*Component Chart Name
2006541Aortopathy Panel Specimen
2006544Aortopathy Panel 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/Duplication
  • 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