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Paediatric Laboratory Medicine

Neurofibromatosis Type 1/Legius Syndrome: Deletion & Duplication Analysis

Background

See related pages for information sheet on NF1/Legius syndrome

Clinical Significance

See related pages for information sheet on NF1/Legius syndrome

Test Name

Neurofibromatosis Type 1/Legius Syndrome: Deletion & Duplication Analysis

Alternate Name/ Synonym

NF1

Gene Name

  • NF1 & SPRED1

Test Code

NF1-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.  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)

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.