2006540
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Aortopathy Panel, Sequencing and Deletion/Duplication

AORT PANEL
Example Reports
Negative
Positive

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Aortopathy Testing Patient History

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Informed Consent for Genetic Testing (Required for NY patients)

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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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

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)
New York State Clients: Transport 5 mL whole blood. (Min: 3 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

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By Report

Interpretive Data

Refer to report.

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

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

  • types 1A/2A, 1B/2B, 3, and 4
  • vascular type, type IV
  • 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)
  • 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
Aortopathy Panel, Sequencing and Deletion/Duplication