Genetic Test Details
Marfan syndrome
Test Information
- Titre
- Marfan syndrome
- Catégorie
- Connective Tissue , Cardiogenetics
- Sub Category
- Marfan Syndrome
- Gene/Platform/Region List
- FBN1
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- 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: 18 juin 2025