Marfan syndrome

Test Information

Titre
Marfan syndrome
Lab
Catégorie
Cardiogenetics, Connective Tissue
Test Name (CMS Title)
Marfan Syndrome
Gene/Platform/Region List
FBN1
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage, MLPA (FBN1).
Disease/Condition
FBN1-Related Marfan Syndrome, Marfan Syndrome, Neonatal Marfan syndrome, Marfan syndrome type 2

Dernière Mise à Jour: 09 décembre 2025