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Paediatric Laboratory Medicine

Neurofibromatosis Type 1/Legius Syndrome

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

Alternate Name/ Synonym

NF1

Gene Name

  • NF1
  • SPRED1

Test Code

NF1

Division

Molecular Genetics

Method

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Neurofibromatosis Type 1/Legius syndrome: Deletion & Duplication analysis.

External Proficiency Testing

CAP

Turn Around Time

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

Disease/Condition

NF1, Von Recklinghausen Disease, Legius Syndrome

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA.

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.

Interpretation

Provided with report