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.
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