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
Not provided.
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
FBN1
Gene
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)
Other tests from different labs that may be relevant