Aortopathy Panel, Sequencing and Deletion/Duplication
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
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 5 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Massively Parallel Sequencing
Refer to report.
Laboratory Developed Test (LDT)
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.
|Component Test Code*||Component Chart Name||LOINC|
|2006541||Aortopathy Panel Specimen||31208-2|
|2006544||Aortopathy Panel Interpretation||62365-2|
- 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, 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) 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