Ordering Recommendation

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

Mnemonic

NF1 NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 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 or pink (EDTA) or yellow (ACD solution A or B)

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

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

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: NF1 (NM_001042492); SPRED1 (NM_152594)

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 and Legius Syndrome Panel, Sequencing and Deletion/Duplication