Panel NGS para enfermedades aorticas

Técnica:
NGS

Genes Variantes:
65 genes (ADAMTS2, ADAMTSL4, ATP7A, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, FOXE3, GAA, GATA5, HRAS, KCNJ8, LOX, MAT2A, MED12, MFAP5, MMADHC, MTHFR, MTR, MTRR, MYH11, MYLK, NKX2-5, NOTCH1, PIEZO2, PKD1, PKD2, PLOD1, PPP1CB, PRDM5, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZDHHC9, ZNF469)

Tipo, Cantidad mínima y conservación de muestra:
Sangre entera en tubo de hemograma, mínimo 2,5mL