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Test 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 Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

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 (preferred) 4 days/Refrigerated


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 followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

NF1 Full Gene Analysis

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed


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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


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