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Paediatric Laboratory Medicine

Neurofibromatosis Type 1/Legius Syndrome: Familial Variant

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: Familial Variant

Test Code

NF1-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)

Disease/Condition

  • NF1
  • Von Recklinghausen Disease
  • Legius syndrome

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.

Interpretation

Provided with report

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