Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
Test Information
- Titre
-
Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
- Catégorie
- Cardiogenetics, Connective Tissue
- Test Name (CMS Title)
-
Ehlers-Danlos Syndrome
- Gene/Platform/Region List
-
ACTA2, ADAMTS2, ATP7A, B4GALT7 (no dosage), CHST14, COL3A1, COL5A1, COL5A2, COL1A1, COL1A2, DSE, FBN2, FKBP14, PLOD1, PRDM5, SLC39A13, SMAD3, TGFB2, TGFBR1, TNXB, TGFBR2, ZNF469
- Test type
- Samples Accepted
- Blood, DNA
- Indications
- Diagnostics
- Test Methodology
- Sequencing
- Methodology Notes
-
Exome + targeted microarray + MLPA
- Disease/Condition
-
EDS, Ehlers Danlos Syndrome
Dernière Mise à Jour: 09 décembre 2025