Ehlers-Danlos Syndrome NGS panel
Genes (full coding region): |
ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 |
Lab method: | NGS panel
NGS panel with CNV |
TAT: | 6-9 weeks |
Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
Ordering information: | Go to online ordering or download sample submission form |