Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
| Test Information | |
|---|---|
| Test Name | Connective Tissue Disease: Ehlers-Danlos Syndrome Panel |
| Lab (Location) | The Hospital for Sick Children |
| Category | Cardiogenetics, Connective Tissue |
| Subcategory | 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 | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Exome + targeted microarray + MLPA |
| Diseases/Conditions | EDS, Ehlers Danlos Syndrome |