Genetic Test Details
Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
Test Information
- Titre
- Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
- Catégorie
- Connective Tissue , Cardiogenetics
- Sub Category
- 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
- Gene Panel
- Samples Accepted
- DNA , Blood
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- Methodology Notes
- Exome + targeted microarray + MLPA
- Disease/Condition
- EDS, Ehlers Danlos Syndrome
Dernière Mise à Jour: 18 juin 2025