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Paediatric Laboratory Medicine

Noonan and RASopathies: Familial Variant

Background

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 and RASopathies: Familial Variant

Alternate Name/ Synonym

Noonan

Test Code

Noonan-FAM

Division

Molecular Genetics

Method

Sequencing (all familial variants) by Sanger sequencing

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal), 3-4 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

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).

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)

Storage/Transportation

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. 

Approval is not required

Interpretation

Provided with report

For more information, please see information sheet under specific condition.