Aortopathy Panel, Sequencing and Deletion/Duplication

2006540
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Example Reports
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Aortopathy Testing Patient History

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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

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
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, BGN, CBS,* COL1A1, COL1A2,* COL3A1, COL5A1,* COL5A2, EFEMP2, FBN1, FBN2, FLNA, FOXE3,* LOX, MFAP5, MYH11, MYLK,* NOTCH1,* PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3,** TGFBR1, TGFBR2

*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
**Deletion/duplication detection is not available for this gene.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/15/2022
X
X
X
X
X
N/A

CPT Codes

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

  • Adams-Oliver syndrome
  • aortic valve disease 1
  • 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)
  • LDS1
  • LDS2
  • LDS3
  • LDS4
  • LDS5
  • LDS6
  • Loeys-Dietz syndrome (LDS) types 1-6
  • Lysyl hydroxylase 3 deficiency
  • Marfan syndrome (MFS)
  • Meester-Loeys syndrome
  • multisystemic smooth muscle dysfunction syndrome
  • periventricular nodular heterotopia 1
  • 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