Neurofibromatosis Type 1 Sequencing and Deletion/Duplication and Legius Syndrome Sequencing Panel
Use to confirm a diagnosis of neurofibromatosis type 1 or Legius syndrome.
Massively Parallel Sequencing/ Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B)
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
Genes tested: NF1, SPRED1**
** -Deletion/duplication detection is not available for this gene.
81405, 81408, 81479
|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|
- Von Recklinghausen Disease