Genetic Test Details
Loeys-Dietz Syndrome
Test Information
- Titre
- Loeys-Dietz Syndrome
- Catégorie
- Connective Tissue , Cardiogenetics
- Sub Category
- Loeys-Dietz Syndrome
- Gene/Platform/Region List
- SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
- Test type
- Gene Panel
- 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 (TGFBR1 and TGFBR2).
- Disease/Condition
- Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2
Dernière Mise à Jour: 18 juin 2025