| Test Information |
| Test Name |
Marfan syndrome |
| Lab (Location) |
Children's Hospital of Eastern Ontario |
| Category |
Cardiogenetics, Connective Tissue |
| Subcategory |
Marfan Syndrome |
| Gene/Platform/Region List |
FBN1 |
| Test type |
Single Gene |
| Samples Accepted |
Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis |
Diagnosis, 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). |
| Diseases/Conditions |
FBN1-Related Marfan Syndrome, Marfan Syndrome, Neonatal Marfan syndrome, Marfan syndrome type 2 |
