Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication
Also known as: NF1 NGS
Use
This test confirms the diagnosis of neurofibromatosis type 1 or Legius syndrome by identifying pathogenic variants in the NF1 and SPRED1 genes. Neurofibromatosis type 1 (NF1) features include cafe au lait macules, axillary and inguinal freckling, cutaneous fibromas, and Lisch nodules. Legius syndrome shares some symptoms like cafe au lait spots and freckling but lacks neurofibromas and CNS tumors. This test uses massively parallel sequencing to detect germline variants, useful for genetic consultation and determining disease-associated familial variants.
Special Instructions
Not provided.
Limitations
The test has inherent limitations, including an inability to detect all potential variants due to technical constraints, such as regulatory and deep intronic variants not being identified. The assay is not designed to detect low-level mosaic or somatic variants, gene conversion events, inversions, translocations, mitochondrial DNA mutations, or repeat expansions. Sensitivity limitations exist for single exon deletions and duplications less than two exons in size. Diagnostic errors may occur due to rare sequence variations.
Methodology
NGS (Targeted)
Biomarkers
NF1, SPRED1
Gene
LOINC Codes
- 66746-9 - Specimen type
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Patient Preparation
New York State Clients: Lavender (EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens, saliva, buccal brush, or swab, FFPE tissue
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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