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Vascular and lymphatic malformations: gene panel

Speciality(ies) / Other Speciality(ies)

Hematologia

Cardiologia, Neurologia, Pediatria

Methodology

NGS

SNS Code

34900

OMIM
Gene Number

63

Test / Mutation List

ACVRL1, ADAMTS13, ADAMTS3, AKT1, AKT3, ANTXR1, ATM, BMPR2, BRAF, CAV1, CBL, CCBE1, CCM2, DOCK6, ELMO2, ENG, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, GLMN, GNAQ, KCNK3, KDR, KIF11, KRAS, KRIT1, LZTR1, MAP2K1, MAP3K3, MTOR, NF1, NF2, NRAS, PDCD10, PDGFRB, PIEZO1, PIK3CA, PTEN, PTPN11, RAF1, RASA1, RIT1, SHOC2, SMAD2, SMAD3, SMAD4, SMARCB1, SOS1, SOX18, SPRED1, STAMBP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TSC1, TSC2, VEGFC

TAT

4 to 5 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.