Aortopathy Panel, Sequencing and Deletion/Duplication

2006540
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Example Reports
Negative
Positive

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Patient History for Aortopathy Testing

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Additional Technical Information

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.

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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

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

N/A

CPT Codes

81228; 81410; 81411

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Components

Component Test Code* Component Chart Name LOINC
2006541 Aortopathy Panel Specimen 31208-2
2006544 Aortopathy Panel Interpretation 62365-2
* 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
Aortopathy Panel, Sequencing and Deletion/Duplication