Skip to main content
Sem resultados.
 
Linha de Apoio ao Cliente Unilabs
2ª a 6ª das 8h00 às 20h00
sábado das 8h30 às 13h00
Go back

Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, DCC, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GGCX, GORAB, LOX, LTBP4, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PIEZO2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SAMD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TPSAB1, ZNF469.

Methodology

NGS

Sample requirements

Descriptive Volume / Concentration Tube / bracket type Transport Temperature Sample viability (days)
DNA
≥ 100 µL [50 ng/µL]
Eppendorf Safe-lock
Room temp.
n/a

Response time (days)

60

Specialties

Cardiology,
x

Bem-vindo ao Unilabs.pt

Visitar unilabs.com

OU ESCOLHA UM PAÍS UNILABS DA LISTA