Aortopathy Panel, Sequencing and Deletion/Duplication
Also known as: AORT PANEL
Use
The Aortopathy Panel, Sequencing and Deletion/Duplication is designed to detect pathogenic variants associated with aortopathy disorders, which are characterized by aortic aneurysms, dissections, or ruptures. This panel is particularly useful for individuals displaying a clinical phenotype of aortic or vascular aneurysm, dissection, or rupture when no specific diagnosis is strongly suspected. It evaluates genes known to be linked with conditions such as thoracic aortic aneurysm and dissection (TAAD), Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and other related syndromic forms.
Special Instructions
Not provided.
Limitations
A negative result does not exclude the possibility of a heritable aortopathy condition. The test primarily detects variants within coding regions and intron-exon boundaries. Deletions, duplications, and insertions may not always be detected, especially in regulatory and deep intronic regions. Certain exons may not be covered by sequencing due to technical limitations, and single exon deletions/duplications may be undetected. The test is not designed to detect low-level mosaicism, somatic variants, complex genomic rearrangements including translocations, or mitochondrial DNA mutations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant