Marfan Syndrome Test
A targeted analysis for Marfan syndrome and FBN1-related conditions, utilizing next-generation sequencing to detect variants and copy number changes.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
1
Panel Description
This panel evaluates 1 gene associated with Marfan syndrome and FNB1-related conditions.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
A relevant personal and/or family history suggestive of Marfan syndrome or other FBN1-related conditions.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with Marfan syndrome and FBN1-related conditions.
Technical Specifications
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
N/A
Genomic build
GRCh38
Genes Tested
1 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 days (standard), Typically ≤ 5 days (requery)
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
This panel evaluates 1 gene associated with Marfan syndrome and FNB1-related conditions.
Ready to order this test?
Contact our clinical team to order the Marfan Syndrome Test for your patients.