Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Noonan Syndrome and RASopathies


See related pages for information sheet on Noonan Syndrome and RASopathies

Clinical Significance

See related pages for information sheet on Noonan Syndrome and RASopathies

Test Name

Noonan Syndrome and RASopathies

Gene Name

  • BRAF
  • CBL
  • HRAS
  • KRAS
  • MAP2K1
  • MAP2K2
  • NRAS
  • PTPN11
  • RAF1
  • RIT1
  • SHOC2
  • SOS1
  • SPRED1

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

Test Code



Molecular Genetics


Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is available only for the SPRED1 gene. Please see Noonan syndrome: Deletion & Duplication analysis.

External Proficiency Testing


Turn Around Time

3–4 weeks (Prenatal), 4–6 weeks (Pregnant or Urgent); 8–10 weeks (Routine)


  • Noonan syndrome
  • Noonan-like  syndrome
  • Costello syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • Legius syndrome

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. Extracted DNA is not accepted for SPRED1 MLPA analysis.

For prenatal and other specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)


If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

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


Provided with report