Test Id : JGLIF
1p/19q Glioma Deletions, FISH, Tissue
    
        Useful For
            
                
                
                    
                    Suggests clinical disorders or settings where the test may be helpful
                
            
    
    Glioma subclassification, prognosis and selection of therapies
    
        Testing Algorithm
            
                
                
                    
                    Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
                
            
    
    This test includes a charge for application of 2 probe sets (4 individual fluorescence in situ hybridization probes), analysis, and professional interpretation of results.
    
        Method Name
            
                
                
                    
                    A short description of the method used to perform the test
                
            
    
    Fluorescence In Situ Hybridization (FISH)
    
        NY State Available
            
                
                
                    
                    Indicates the status of NY State approval and if the test is orderable for NY State clients.
                
            
    
    
    
        Reporting Name
            
                
                
                    
                    Lists a shorter or abbreviated version of the Published Name for a test
                
            
    
    
    
        Aliases
            
                
                
                    
                    Lists additional common names for a test, as an aid in searching
                
            
    
    Brain
Brain Cancer
Glioma
1p/19q
Oligodendroglioma
    
        Testing Algorithm
            
                
                
                    
                    Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
                
            
    
    This test includes a charge for application of 2 probe sets (4 individual fluorescence in situ hybridization probes), analysis, and professional interpretation of results.
    
        Specimen Type
            
                
                
                    
                    Describes the specimen type validated for testing
                
            
    
        Tissue
    
        Ordering Guidance
    
    To evaluate for acquired alterations associated with the molecular classification of glioma, chromosomal microarray rather than fluorescence in situ hybridization may be of benefit, order CMAPT / Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded.(1)
    
        Shipping Instructions
    
    Advise Express Mail or equivalent if not on courier service.
Ship paraffin blocks on ice packs during warm months.
    
        Necessary Information
    
    A reason for testing and pathology report are required for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
    
        Specimen Required
            
                
                
                    
                    Defines the optimal specimen required to perform the test and the preferred volume to complete testing
                
            
    
    Submit only 1 of the following specimens:
Preferred
Specimen Type: Tissue block
Collection Instructions:
1. Submit a formalin-fixed, paraffin-embedded tumor tissue block.
2. Provide fixation method used.
Additional Information: Blocks prepared with alternative fixation methods will not be accepted.
Acceptable
Specimen Type: Tissue slides
Slides: 1 hematoxylin and eosin-stained and 3 unstained
Collection Instructions:
1. Submit 1 slide stained with hematoxylin and eosin and 3 consecutive, unstained, positively charged, unbaked, slides with 4 to 5 micron-thick sections of the tumor tissue.
2. Provide fixation method used.
Additional Information: Slides cut from blocks prepared with alternative fixation methods will not be accepted.
    
        Forms
    
    
            
            
    
        Specimen Minimum Volume
            
                
                
                    
                    Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
                
            
    
    Tissue slides: 2 consecutive unstained and 1 hematoxylin and eosin stained 
    
        Reject Due To
            
                
                
                    
                    Identifies specimen types and conditions that may cause the specimen to be rejected
                
            
    
    | Decalcified specimens | Reject | 
    
        Specimen Stability Information
            
                
                
                    
                    Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
                
            
    
    | Specimen Type | Temperature | Time | Special Container | 
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
    
        Useful For
            
                
                
                    
                    Suggests clinical disorders or settings where the test may be helpful
                
            
    
    Glioma subclassification, prognosis and selection of therapies
    
        Testing Algorithm
            
                
                
                    
                    Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
                
            
    
    This test includes a charge for application of 2 probe sets (4 individual fluorescence in situ hybridization probes), analysis, and professional interpretation of results.
    
        Clinical Information
            
                
                
                    
                    Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
                
            
    
    Chromosome 1p/19q co-deletion is a diagnostic and prognostic marker of oligodendroglioma. Studies have shown that the co-deletion of these 2 chromosomal arms is due to a balanced whole arm translocation between chromosomes 1 and 19 and subsequent loss of the 1p and 19q arms. Detection of 1p/19q co-deletion along with molecular testing of other genes including MGMT promotor methylation, IDH1/2 variant, TERT promotor variants, as well as TP53 variants, will assist glioma classification and predicting prognosis and providing a guidance for treatment. Variants in many other genes may occur and detection of these by next generation sequencing may provide useful information for classification and therapeutic consideration.
1p/19q co-deletion is determined by fluorescence in situ hybridization (FISH) in this test. Interpretation of the clinical significance of the FISH result should be correlated with the results of other molecular testing for disease subclassification and therapy selection. While IDH1/2 variants with co-deletion of 1p and 19q define oligodendrogliomas, isolated 19q loss is common in astrocytomas and focal loss of 1p frequently is seen in IDH-wild-type glioblastoma. Rarely, a 1p/19q co-deletion detected by FISH may not represent loss of the whole chromosome 1p and 19q arms. If a positive FISH result is not consistent with the disease subclassification, additional tests such as chromosome microarray should be considered to confirm presence of 1p/19q whole arm loss.
    
        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.
                
            
    
    An interpretive report will be provided.
    
        Interpretation
            
                
                
                    
                    Provides information to assist in interpretation of the test results
                
            
    
    While IDH1/2 variants with co-deletion of 1p and 19q define oligodendrogliomas, isolated 19q loss is common in astrocytomas and focal loss of 1p frequently is seen in IDH wildtype glioblastoma. Interpretation of the fluorescence in situ hybridization result must be correlated with other molecular testing results.
    
        Cautions
            
                
                
                    
                    Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
                
            
    
    Optimum fixation is performed in 10% neutral buffered formalin. Other types of fixatives should not be used.
The information provided by the 1p/19q status of a patient's tumor should not be interpreted in isolation.
    
        Clinical Reference
            
                
                
                    
                    Recommendations for in-depth reading of a clinical nature
                
            
    
    1. Eckel Passow JE, Lachance DH, Molinaro AM, et al. Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. N Engl J Med. 2015;372(26):2499-2508
2. Weller M, Wick W, Aldape K, et al. Glioma. Nat Rev Dis Primers. 2015;1:15017
3. Reifenberger G, Wirsching HG, Knobbe-Thomsen CB, Weller M. Advances in the molecular genetics of gliomas implications for classification and therapy. Nat Rev Clin Oncol. 2017;14(7):434-452
4. Chen R, Smith-Cohn M, Cohen AL, Colman H. Glioma Subclassifications and Their Clinical Significance. Neurotherapeutics. 2017;14(2):284-297
5. Nicholson JG, Fine HA. Diffuse Glioma Heterogeneity and Its Therapeutic Implications. Cancer Discov. 2021;11(3):575-590
6. Galbraith K, Snuderl M. Molecular Pathology of Gliomas. Surg Pathol Clin. 2021;14(3):379-386
    
        Method Description
            
                
                
                    
                    Describes how the test is performed and provides a method-specific reference
                
            
    
    The test uses 2 commercially available enumeration strategy probe sets: 1p36(TP73)/1q25(ABL2) and 19p13(D19S221)/19q13.3(EHD2). Formalin-fixed paraffin-embedded tissues cut at 4 to 5 microns and mounted on positively charged glass slides are used. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide is performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. The probe sets are hybridized to the appropriate target areas. For each probe set, 2 technologists each analyze 50 interphase nuclei (100 total for each probe set) with the results expressed as a ratio of the total number of 1p36:1q and 19q13.3:19p signals.(Unpublished Mayo method)
    
        PDF Report
            
                
                
                    
                    Indicates whether the report includes an additional document with charts, images or other enriched information
                
            
    
    
    
        Day(s) Performed
            
                
                
                    
                    Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
                
            
    
    Monday through Friday
    
        Report Available
            
                
                
                    
                    The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
                
            
    
    
    
        Specimen Retention Time
            
                
                
                    
                    Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
                
            
    
    
    
        Performing Laboratory Location
            
                
                
                    
                    Indicates the location of the laboratory that performs the test
                
            
    
    
    
        Fees :
            
                
                
                    
                    Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
                
            
    
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        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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
                
            
    
    This test was developed using an analyte specific reagent. Its performance characteristics were 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
            
                
                
                    
                    Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
                
            
    
    CPT codes are provided by the performing laboratory.
88377 x 2 (2 probe sets)
    
        LOINC® Information
            
                
                
                    
                    Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
                
            
    
    | Test Id | Test Order Name | Order LOINC Value | 
|---|---|---|
| JGLIF | 1p/19q Deletion, Glioma, FISH, Tis | 107239-6 | 
| Result Id | Test Result Name | Result LOINC Value 
                                        
                                        Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
                                     | 
|---|---|---|
| 606667 | Result Summary | 50397-9 | 
| 606668 | Interpretation | 69965-2 | 
| 606669 | Result | 62356-1 | 
| 606670 | Reason for Referral | 42349-1 | 
| 606671 | Specimen | 31208-2 | 
| 606672 | Source | 85298-8 | 
| 606673 | Tissue ID | 80398-1 | 
| 606674 | Fixative | 8100-0 | 
| 606675 | Method | 85069-3 | 
| 606676 | Additional Information | 48767-8 | 
| 606677 | Disclaimer | 62364-5 | 
| 606678 | Released By | 18771-6 |