Go to Sitemap
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.
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
- Noonan syndrome
- Noonan-like syndrome
- Costello syndrome
- CFC syndrome
- LEOPARD syndrome
- Legius syndrome
Browse tests by laboratory
Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200