Ehlers-Danlos Syndrome and Related Disorders Panel (28 Genes)
| TEST CODE | MGT0190 |
| TEST NAME | Ehlers-Danlos Syndrome and Related Disorders Panel (28 Genes) |
| RELATED GENE | ADAMTS2, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, GORAB, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469 |
| SYNONYMOUS | ADAMTS2, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, GORAB, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders caused by abnormalities in the structure and production of collagen. Within the scope of the panel, 28 genes associated with Ehlers-Danlos syndrome are examined. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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