Preferred panel for individuals with clinical phenotype of aortic or vascular aneurysm, dissection, or rupture if no single specific diagnosis is strongly suspected.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Aortopathy Disorders with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
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.
|Component Test Code*||Component Chart Name||LOINC|
|2006541||Aortopathy Panel Specimen||31208-2|
|2006544||Aortopathy Panel Interpretation||62365-2|
- 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)
- 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