BRAF Mutation (T1799A) Analysis by PCR and Sequencing, Thyroid
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Aids in the diagnosis of papillary thyroid carcinoma or anaplastic thyroid carcinoma in fine-needle aspirate specimens
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|60254||AP Special Studies Review||No||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
This test is performed in conjunction with 60254 / Anatomic Pathology Special Studies Review and 70011 / Slide Review. Additional testing may be performed after review by pathologist. Upon approval from the requesting clinician, 60254 / Anatomic Pathology Special Studies Review could be changed to 70012 / Pathology Consultation, if determined to be more appropriate.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Polymerase Chain Reaction (PCR) and Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
BRAF Mutation (T1799A) Analysis
Papillary thyroid carcinoma
Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
A pathology/diagnostic report including a brief history is required.
Thyroid lesions are required for this test.
Specimens other than fine-needle aspiration (FNA) cytology slides stained with Papanicolaou may be accepted for BRAF testing in the Molecular Genetics Laboratory. Refer to tests BRAF / BRAF Mutation Analysis (V600E), Tumor and MLBRF / MLH1 Hypermethylation and BRAF Mutation Analyses, Tumor.
Specimen Type: Thyroid lesions: FNA cytology slides stained with Papanicolaou
Container/Tube: Surgical Pathology Packaging Kit (Supply T554) requested, but not required
Specimen Volume: A minimum of 300 tumor cells total and 60% tumor cell population are required for testing. Slides may be scraped.
A quality specimen is essential for evaluation. Submit only slides containing tumor cells.
Forms: If not ordering electronically, submit a Pathology/Cytology Request Form (Supply T246) with the specimen.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Papillary thyroid carcinoma (PTC) accounts for approximately 80% of all thyroid cancers. The BRAF gene mutation (T1799A) in exon 15 is the most common genetic alteration in thyroid cancer, occurring in 30% to 70% of sporadic PTC and 10% to 30% of anaplastic thyroid carcinoma, but not in other types of thyroid tumors.(1-3) Fine-needle aspiration (FNA) biopsy with cytological analysis is the best preoperative diagnostic method for thyroid tumors, but 15% to 20% of FNA biopsies yield indeterminate results. Detection of the BRAF mutation (T1799A) can help in the diagnosis of thyroid tumors, especially for indeterminate cases.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
A negative result does not rule out the presence of a mutation. A positive result supports a diagnosis of papillary thyroid carcinoma (PTC) or anaplastic thyroid carcinoma (ATC), but a negative result does not necessarily rule out a diagnosis of PTC or ATC.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology fine-needle aspiration specimens stained with Papanicolaou. Improper treatment of tissues, such as decalcification, may cause PCR failure. False-negative results may occur in heterozygous tumor specimens when tumor cells comprise <60% of the cell population. Tumor cells are routinely enriched by macrodissection to avoid false-negative results.
Clinical diagnosis and therapy should not be based solely on this assay. The results should be considered in conjunction with clinical information, histologic evaluation, and additional diagnostic tests.
The BRAF mutation (T1799A) test was performed by PCR and sequencing in 115 thyroid specimens (26 fine-needle aspiration specimens and 89 formalin-fixed, paraffin-embedded tissues). The BRAF mutation (T1799A) was detected in 31 of 79 papillary thyroid carcinoma (PTC) (clinical sensitivity: 39.2%), 2 of 3 anaplastic thyroid carcinoma, and 0 of 33 non-PTC specimens (clinical specificity: 100%).
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Jin L, Sebo TJ, Nakamura N, et al: BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 2006;15:136-143
2. Nakamura N, Carney JA, Jin L, et al: RASSF1A and NORE1A methylation and BRAFV600E mutations in thyroid tumors. Lab Invest 2005;85:1065-1075
3. Nikiforova MN, Kimura ET, Gandhi M, et al: BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 2003;88:5399-5404
Method Description Describes how the test is performed and provides a method-specific reference
Tissue from cytology slides is lysed and digested. Genomic DNA is extracted from thyroid specimens using a phenol-chloroform method. The DNA is amplified via PCR. Primers specific for the BRAF exon 15 gene are used. Controls are run with each specimen to assess possible contamination issues and overall test performance. The patient and control samples are sent for direct DNA sequencing. The sequencing chromatograms are analyzed by manual and software methods and the presence or absence of the BRAF mutation (T1799A) is determined. The results are interpreted and reported by a working group pathologist.(Jin L, Sebo TJ, Nakamura N, et al: BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 2006;15:136-143; Nakamura N, Carney JA, Jin L, et al: RASSF1A and NORE1A methylation and BRAFV600E mutations in thyroid tumors. Lab Invest 2005;85:1065-1075)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 8 a.m.–5 p.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
1 week/7 days
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
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 U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81210-BRAF (v-raf murine sarcoma viral oncogene homolog B1) (eg, colon cancer), gene analysis, V600E variant
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|89045||BRAF Mutation (T1799A) Analysis||53844-7|