Molecular Genetics

ClinVar

Utilizing ClinVar, 106 pathogenic variants are described for the FBN1 gene. Unfortunately, there are no professional societies or expert panels that recognize these variants.

Pathogenic variants: 106

Professional society: 0

Expert panel: 0

Genetests.org

Utilizing genetest.org, I searched for FBN1 in the list of genes they have on their website. It appears that 70 labs across the USA offer testing for Marfan’s syndrome. All the testing is molecular testing, however, several tests methods are used. The majority of them use array testing (deletion/duplication/copy number) or next gen sequencing, however a few are using capillary sequencing, mutation scanning of the entire coding region, mutation scanning of select exons, and genotyping.

NCBI Genetic Test Reference

Using the NCBI genetic test reference website, there appears to be 54 labs in the USA that test for FBN1 to identify Marfan’s Syndrome. The also solely use molecular genetic testing, however the majority of the testing appears to be via sequence analysis of the entire coding region. Other test methods include: deletion/duplication analysis, sequence analysis of select exons, mutation scanning of the entire coding region, and target variant analysis.

More to follow.... :)