Marfan Syndrome via the FBN1 Gene
Use
This test is intended for individuals with relevant features or a clinical or suspected diagnosis of Marfan syndrome. It is also suitable for individuals who have a family member with presumed Marfan syndrome who hasn’t undergone previous genetic testing, as well as individuals without specific variant information for a family member who has been genetically confirmed with the condition.
Special Instructions
The test can be added as part of an exome-wide CNV analysis for an additional charge. STAT testing options are available, and it should be ordered by a qualified healthcare provider using the provided test requisition form if not ordering online through myPrevent.
Limitations
The performance characteristics of this test were validated by PreventionGenetics LLC following CAP and CLIA regulations. However, these tests have not been cleared or approved by the US FDA. Detailed clinical notes and/or completion of a clinical features checklist are required for variant interpretation. The interpretation directly correlates with the quality of the clinical information provided.
New York Approved
Methodology
NGS (Targeted)
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