Síndromes neurocutâneos

Síndromes neurocutâneos alargado

Lista de Genes
ACVRL1, ADAMTS13, ADAMTS3, AKT1, AKT2, AKT3, ANTXR1, ATM
BMPR2, BRAF
CAV1, CBL, CCBE1, CCM2, CCND2, CDKN1C, CUL4B
DNMT3A, DOCK6
ELMO2, ENG, EPHB4, EZH2
FAT4, FLT4, FOXC2
GATA2, GDF2, GJC2, GLI3, GLMN, GNAQ, GPC3
KCNK3, KDR, KIF11, KRAS, KRIT1
LZTR1
MAP2K1, MAP3K3, MED12, MTOR
NF1, NF2, NFIX, NRAS, NSD1
PDCD10, PDGFRB, PHF6, PIEZO1, PIK3CA, PIK3CB, PIK3CD, PIK3R1, PIK3R2, PIK3R3, PTCH1, PTEN, PTPN11
RAF1, RASA1, RIT1, RNF135
SHOC2, SMAD2, SMAD3, SMAD4, SMARCB1, SOS1, SOX18, SPRED1, STAMBP
TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TSC1, TSC2
UPF3B
VEGFC
90 dias
2mL de sangue em tubo com EDTA; tecido afetado
Análise do DNA mitocondrial mediante pedido