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HelpTest ID: NF1Z Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer panel that includes the NF1 gene, consider ordering 1 of the following tests:
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-HPGLP / Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Testing for NF1 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes before collection.
Supplies: Saliva Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1)
Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks
Identifying genetic variants associated with increased risk for NF1 allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the NF1 gene associated with neurofibromatosis type 1 (NF1). See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for NF1
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
NF1 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Germline variants in the NF1 gene are associated with neurofibromatosis type 1 (NF1), an autosomal dominant hereditary tumor syndrome.(1) NF1 is characterized by many manifestations beginning in childhood, including multiple cafe au lait macules, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, iris hamartomas (known as Lisch nodules), and increased lifetime risk to develop optic glioma, other brain tumors, malignant peripheral nerve sheath tumors, and breast cancer.(1) NF1 has also been associated with learning disabilities, vasculopathy, and musculoskeletal features such as osteopenia, long bone dysplasia, and scoliosis.(1) Almost half of all individuals with NF1 have no family history as their variants arose de novo, during gamete formation or early embryogenesis.(1)
Of note, some individuals may present with segmental/mosaic NF1, where an NF1 variant may be localized to only one segment or a few segments of the body. This test may not detect mosaic NF1.(1)
The National Comprehensive Cancer Network provides recommendations regarding the breast cancer surveillance of adults with NF1.(2) Other medical management guidelines have been published by the American Academy of Pediatrics and the American College of Medical Genetics.(3,4)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Friedman JM. Neurofibromatosis 1. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1998. Updated April 21, 2022. Accessed September 9, 2024. Available at: www.ncbi.nlm.nih.gov/books/NBK1109/
2. Daly MB, Pal T, Berry MP, et al. Genetic/Familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102
3. Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS: Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5):e20190660
4. Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):671-682
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
21 days to 28 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81408
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NF1Z | NF1 Full Gene Analysis | 101385-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614767 | Test Description | 62364-5 |
| 614768 | Specimen | 31208-2 |
| 614769 | Source | 31208-2 |
| 614770 | Result Summary | 50397-9 |
| 614771 | Result | 82939-0 |
| 614772 | Interpretation | 69047-9 |
| 614773 | Resources | 99622-3 |
| 614774 | Additional Information | 48767-8 |
| 614775 | Method | 85069-3 |
| 614776 | Genes Analyzed | 48018-6 |
| 614777 | Disclaimer | 62364-5 |
| 614778 | Released By | 18771-6 |
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