Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Use
This test evaluates patients with a personal or family history that suggests neurofibromatosis type 1 (NF1). It helps in establishing a diagnosis of NF1, which allows for targeted cancer surveillance based on associated risks. Additionally, the test identifies genetic variants linked with increased NF1 risk, supporting predictive testing for at-risk family members. Identifying a disease-causing variant assists with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for NF1.
Special Instructions
Not provided.
Limitations
The test may not detect all types of genomic variants. False negatives or positives can occur due to variable depth of coverage for some target regions. NGS may not detect balanced structural rearrangements like translocations and inversions. There may be reduced performance in regions of homology, high GC content, or repetitive sequences. Some gene regions may not be effectively evaluated, leading to potential test failure due to DNA inadequacy from non-standard specimens like saliva or blood spots.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
NF1
Gene
LOINC Codes
- 101385-3 - NF1 gene Del+Dup + Full Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |