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Paediatric Laboratory Medicine

Noonan Syndrome and RASopathies: Deletion and Duplication Analysis

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 Syndrome and RASopathies: Deletion and Duplication Analysis

Alternate Name/ Synonym

Noonan

Gene Name

  • SPRED1

Test Code

Noonan-Dosage

Division

Molecular Genetics

Method

Deletion & Duplication Analysis by MLPA

Turn Around Time

4 weeks

Specimen Type

Blood; We will not accept extracted DNA for this test.

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)

Special Requirements

Special Instructions for Genome Diagnostics Samples

We will not accept extracted DNA for this test

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