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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

Turnaround Requery

≤ 5 days

Test Description

This panel evaluates 1 gene associated with Marfan syndrome and FNB1-related conditions.

View the complete description of this test

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

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 notesN/AGenomic buildGRCh38

Genes Tested

FBN1

Showing 1 of 1 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 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.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. The condition is caused by pathogenic variants in FBN1, which encodes fibrillin-1. Approximately 25% of pathogenic variants in FBN1 are de novo, meaning that they are new in the affected individual. Expression of Marfan syndrome is highly variable. The most common findings are ocular (severe myopia, ectopia lentis, increased risk for retinal detachment, early-onset glaucoma and cataracts),
skeletal (tall and slender build, disproportionately long arms, legs, fingers and toes, pectus excavatum/carinatum, scoliosis or kyphosis, joint hypermobility) and cardiovascular (mitral valve prolapse, aortic valve regurgitation, aortic root dilation and aneurysm formation).

Diagnosis of Marfan syndrome is based on a combination of clinical findings, family history and genetic testing. The Ghent nosology (which considers major and minor criteria across organ systems) is commonly used for diagnosis.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.