Marfan Syndrome Test

Turnaround time: 7-24 days

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.