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Noonan syndrome/RASopathies: gene panel

Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

24

Test / Mutation List

A2ML1, BRAF, CBL, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

TAT

3 to 4 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.