Marfan Syndrome and Related Aortopathies Panel
Use
This test is designed for individuals with relevant features or with a clinical or suspected diagnosis of Marfan syndrome, thoracic aortic aneurysm and dissection (TAAD), or those with a family history of these conditions who lack specific genetic information. It helps in confirming genetic contributions, providing guidance for management, and assessing recurrence risks in family members.
Special Instructions
The test is performed using NGS with CNV analysis on either an exome or genome platform. STAT testing options are available, which reduces the turnaround time (TAT) to 7-16 days with an additional charge. Specimen collection should include relevant clinical information or a pedigree for variant interpretation.
Limitations
The test is comprehensive, covering 40 genes related to Marfan syndrome and related aortopathies. However, genetic heterogeneity in these conditions might mean that not all genetic causes are detectable by this panel. Variants of uncertain significance may be found, and the test might not cover all novel or rare variants fully.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided