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Test Code 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

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

NF1 Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 1 mL; Saliva: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Day(s) Performed

Varies

Report Available

21 days to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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