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Noonan Syndrome and RASopathies

Alternate test name

Gene name / Alternate gene name
  • BRAF
  • CBL
  • HRAS
  • KRAS
  • MAP2K1
  • MAP2K2
  • NRAS
  • PTPN11
  • RAF1
  • RIT1
  • SHOC2
  • SOS1
  • SPRED1
  • LZTR1
  • SOS2

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

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & Duplication analysis by MLPA for the SPRED1 gene ONLY. Sequencing (all familial variants) by Sanger sequencing.
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2 weeks Routine: 6 week
Specimen type

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).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

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 requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection. 

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Disease condition
  • Noonan syndrome
  • Noonan-like  syndrome
  • Costello syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • Legius syndrome
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