Noonan Syndrome and RASopathies
Alternate Gene Name
BRAF1, RNF55, c-Cbl, KRAS1, MEK1, MAPKK1, MEK2, N-ras, BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2, Raf-1, c-Raf, CRAF, RIBB, ROC1, MGC125864, MGC125865, KIAA0862, SOC2, SUR-8, SOC-2, SUR8, HGF, GF1, FLJ33903
Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.
For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
DNA extracted at an external lab is not accepted for MLPA testing.
Please ship us the blood sample within 48 hours of collection.
- Noonan syndrome
- Noonan-like syndrome
- Costello syndrome
- CFC syndrome
- LEOPARD syndrome
- Legius syndrome
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