Síndromes neurocutâneos

Síndromes neurocutâneas/ sobrecrescimento/ malformações vasculares e linfáticas

Lista de Genes
ABCC9, ACVRL1, ADAMTS13, ADAMTS3, AKT1, AKT2, AKT3, ANTXR1, ASPA, ASXL2, ATM
BMPR2, BRAF, BRWD3
CAV1, CBL, CCBE1, CCM2, CCND2, CDKN1C, CELSR1, CHD8, CUL4B
DHCR24, DICER1, DIS3L2, DNMT3A, DOCK6
EDN3, EDNRB, EED, EIF2B5, ELMO2, ENG, EPHB4, EZH2
FAT4, FLT4, FOXC2
GATA2, GDF2, GFAP, GJC2, GLI3, GLMN, GNAQ, GPC3, GPC4, GPSM2, GRIA3
H1-4, HEPACAM, HERC1, HRAS, HUWE1
IGF2
KCNJ11, KCNK3, KCNK4, KDR, KIF11, KIF7, KIT, KLLN, KMT2A, KPTN, KRAS, KRIT1
L1CAM, LEMD3, LZTR1
MAP2K1, MAP2K2, MAP3K3, MED12, MITF, MLC1, MPDZ, MTOR
NF1, NF2, NFIA, NFIX, NPR2, NRAS, NSD1
OFD1
PAX3, PDCD10, PDGFRB, PHF6, PIEZO1, PIGA, PIK3CA, PIK3CB, PIK3CD, PIK3R1, PIK3R2, PIK3R3, PPP1CB, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, PTPN11, PTPN14
RAB39B, RAF1, RASA1, RIT1, RNF125, RNF135
SDHB, SDHD, SEC23B, SETD2, SHOC2, SMAD2, SMAD3, SMAD4, SMARCB1, SNAI2, SOS1, SOS2, SOST, SOX10, SOX18, SPRED1, STAMBP, STK11, STRADA, SUZ12, SYN1
TBC1D2B, TBC1D7, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM94, TSC1, TSC2
UPF3B
VEGFC
ZBTB20
90 dias
2mL de sangue em tubo com EDTA; tecido afetado
Análise do DNA mitocondrial mediante pedido