Genetic Test Details
Marfan syndrome
Test Information
- Titre
-
Marfan syndrome
- Catégorie
- Cardiogenetics, Connective Tissue
- Sub Category
-
Marfan Syndrome
- Gene/Platform/Region List
-
FBN1
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Amniotic Fluid, Chorionic Villi, Cultured cells - amniocytes or CVS
- Indications
- Diagnostics, Carrier Cascade Testing, Prenatal
- Test Methodology
- CNV, 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: 04 juin 2026
