Genetic Test Details
Loeys-Dietz Syndrome
Test Information
- Titre
-
Loeys-Dietz Syndrome
- Catégorie
- Cardiogenetics, Connective Tissue
- Sub Category
-
Loeys-Dietz Syndrome
- Gene/Platform/Region List
-
SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA, Cultured Cells, Amniocyte, 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 (TGFBR1 and TGFBR2).
- Disease/Condition
-
Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2
Dernière Mise à Jour: 05 septembre 2025