Invitae Marfan Syndrome Test
Use
This test is designed for individuals with a clinical diagnosis of Marfan syndrome and analyzes the FBN1 gene. Genetic testing can help confirm a diagnosis, assess risk, and inform medical management, particularly for asymptomatic individuals within families with a known FBN1 pathogenic variant.
Special Instructions
Turnaround time for this test is 10–21 calendar days, averaging 14 days. The preferred specimen is whole blood, but other types are accepted. Specimen requirements and more detailed information can be found on the provider's website.
Limitations
The analysis provides >99% analytical sensitivity and specificity for SNVs, indels <15bp, and exon-level CNVs. It may not detect all variant types such as large structural rearrangements and certain complex regions. Single-exon events might occasionally not be analyzed due to sequence properties. Mosaicism and non-coding regions are not typically covered.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)