Ordering Recommendation

Use to confirm a diagnosis of neurofibromatosis type 1 or Legius syndrome.

Mnemonic

NF1 NGS

Methodology

Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: NF1, SPRED1**
** -Deletion/duplication detection is not available for this gene.

Hotline History

N/A

CPT Codes

81405, 81408, 81479

Components

Component Test Code* Component Chart Name LOINC
3003928 NF1 and LS (SPRED1) Panel Specimen 66746-9
3003929 NF1 and LS (SPRED1) Panel Interpretation 50398-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • NF1
  • SPRED1
  • Von Recklinghausen Disease
Neurofibromatosis Type 1 Sequencing and Deletion/Duplication and Legius Syndrome Sequencing Panel