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Aortopathy Panel, Sequencing and Deletion/Duplication
2006540
Ordering Recommendation

Preferred panel for individuals with clinical phenotype of aortic or vascular aneurysm, dissection, or rupture if no single specific diagnosis is strongly suspected.

Mnemonic
AORT PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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, LOX**, MYH11, MYLK, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
 
** Deletion/duplication detection is not available for this gene.
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
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
  • arterial tortuosity syndrome
  • cardiac valvular dysplasia, X-linked
  • classic type, types I/II
  • congenital contractural arachnodactyly
  • cutis laxa, autosomal recessive, type IB
  • EDS
  • EDS, kyphoscoliotic form, type VI
  • Ehlers-Danlos (EDS) syndrome
  • familial aortic aneurysm, thoracic
  • heritable thoracic aortic disease
  • homocystinuria due to cystathionine betasynthase deficiency
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPS/HHT)
  • Loeys-Dietz syndrome (LDS)
  • Lysyl hydroxylase 3 deficiency
  • Marfan syndrome (MFS)
  • Shprintzen-Goldberg syndrome
  • Thoracic aortic aneurysms and aortic dissections (TAAD)
  • types 1A/2A, 1B/2B, 3, and 4
  • vascular type, type IV