Hematologia

Falência Medular

Lista de Genes
ABCB7, ACD, ADA2, AK2, ALAS2, ANKRD26, AP3B1, ATM, ATR, ATRX
BLM, BRCA1, BRCA2, BRIP1
CD40LG, CDAN1, CDIN1, CLPB, CSF3R, CTC1, CTLA4, CXCR2, CXCR4
DKC1, DNAJC21, DNASE2
EFL1, EIF2AK3, ELANE, EPO, ERCC4, ERCC6L2, ETV6
FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM
G6PC3, GATA1, GATA2, GFI1, GLRX5, GP1BA
HAX1, HOXA11, HYOU1
IKZF1, ITGA2B, ITK
JAGN1
KCNN4, KLF1
LAMTOR2, LIG4, LYST
MAD2L2, MECOM, MLH1, MPIG6B, MPL, MRTFA, MSH2, MSH6, MYH9, MYO5A, MYSM1
NAF1, NBN, NHEJ1, NHP2, NOP10, NSMCE3
PALB2, PARN, PIEZO1, PMS2, POT1, PRF1, PTPN11, PUS1
RAB27A, RAC2, RAD51, RAD51C, RBM8A, RFWD3, RNF168, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1
SAMD9, SAMD9L, SBDS, SEC23B, SH2D1A, SLC19A2, SLC25A38, SLC37A4, SLX4, SMARCD2, SRP54, SRP72, STAT3, STIM1, STK4, STN1, STX11, STXBP2
TAFAZZIN, TBXAS1, TCIRG1, TCN2, TERF1, TERF2, TERF2IP, TERT, TET2, THPO, TINF2, TP53, TSR2, TUBB1
UBE2T, UNC13D, USB1
VPS13B, VPS45
WAS, WDR1, WIPF1, WRAP53
XIAP, XRCC2
ZCCHC8
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido