Test Catalog

Test Id : MISCF

Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Useful For
Suggests clinical disorders or settings where the test may be helpful

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis

 

Identifying gain, loss, or rearrangement of chromosome regions using gene or locus-specific probes

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_ML10 Metaphases, 1-9 No, (Bill Only) No
_M30 Metaphases, >=10 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Consult with the laboratory before ordering this test.

 

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed. If no cells are available for analysis, no analysis charges will be incurred.

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.

No

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Miscellaneous Studies, FISH

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Consult with the laboratory before ordering this test.

 

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed. If no cells are available for analysis, no analysis charges will be incurred.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

Consult with the laboratory before ordering this test.

 

The fluorescence in situ hybridization (FISH) probes to be analyzed must be specified on the request when ordering, otherwise test processing may be delayed in order to determine the intended analysis. If specific probes are not provided, this test may be canceled by the laboratory.

 

If testing bone marrow or blood samples for specific hematologic malignancies is desired, order HEMMF / Hematologic Specified FISH, Varies. If specific FISH probes for hematologic malignancies are ordered and a bone marrow or blood sample is received, this test will be canceled and automatically reordered by the laboratory as HEMMF / Hematologic Specified FISH, Varies.

Necessary Information

1. A list of probes requested for analysis is required.

2. A reason for testing should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

3. A pathology report may be requested by the laboratory to optimize testing and aid in the interpretation of results. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG746 Reason for Referral
CG943 Specimen Amniotic Fluid
Whole blood ACD
Lymph Node
Skin Biopsy
Solid Tumor
Tissue

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

 

Advise Express Mail or equivalent if not on courier service.

 

Submit only 1 of the following specimens:

 

Specimen Type: Amniotic fluid

Supplies: Refrigerate/Ambient Shipping Box, 5 lb (T329)

Container/Tube: Amniotic fluid container

Specimen Volume: 20-25 mL

Collection Instructions:

1. Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted. Provide gestational age at the time of amniocentesis.

2. Discard the first 2 mL of amniotic fluid.

3. Place the tubes in a shipping box.

4. Fill remaining space with packing material.

Additional Information:

1. Unavoidably, about 1% to 2% of mailed-in specimens are not viable.

2. Bloody specimens are undesirable.

3. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

4. Results will be reported and telephoned or faxed, if requested.

 

Specimen Type: Blood (only accepted for Congenital/Hereditary [nonhematologic] testing)

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Other anticoagulants are not recommended and are harmful to the viability of the cells.

 

Specimen Type: Chorionic villi (CVS)

Supplies: CVS Media (RPMI) and Small Dish (T095)

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 to 25 mg

Collection Instructions:

1. Collect specimen by the transabdominal or transcervical method.

2. Transfer chorionic villi to a Petri dish containing transport medium (eg, CVS media (RPMI)).

3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.

 

Specimen Type: Lymph node

Supplies: Hank's Solution (T132)

Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline

Specimen Volume: 1 cm(3)

 

Specimen Type: Skin biopsy

Supplies: Hank's Solution (T132)

Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline

Specimen Volume: 1-cm(3) biopsy specimen of muscle/fascia from the thigh

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. A local anesthetic may be used.

5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

Additional Information:

1. Paraffin embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).

2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.

 

Acceptable: Slides

Collection Instructions: For each probe set ordered, 4 consecutive, unstained, 5 micron-thick sections placed on positively charged slides. Include 1 hematoxylin and eosin-stained slide for the entire test order.

 

Supplies: Hank's Solution (T132)

Specimen Type: Tumor

Container/Tube: Sterile container with sterile Hank's balanced salt solution, Ringer's solution, or normal saline

Specimen Volume: 0.5 to 3 cm(3) or larger

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Amniotic fluid: 5 mL; Blood: 2 mL; Chorionic villi: 5 mg; Lymph node: 0.5 cm(3); Solid tumor: 0.5 cm(3)

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

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
Varies Ambient (preferred)
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis

 

Identifying gain, loss, or rearrangement of chromosome regions using gene or locus-specific probes

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Consult with the laboratory before ordering this test.

 

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed. If no cells are available for analysis, no analysis charges will be incurred.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Conventional cytogenetic studies can identify the presence of chromosome abnormalities and most mosaic conditions. In approximately 2% of these chromosomally abnormal cases, the genetic makeup of the chromosome abnormality can be identified, but not completely characterized, by conventional techniques alone. For malignant disorders, the proportion of specimens with unresolvable chromosome abnormalities is much higher. Chromosomal microarray analysis (CMA) can detect copy number gain or loss of a chromosomal region but cannot identify the mechanism.

 

Fluorescence in situ hybridization using gene-specific probes and various probe strategies can help characterize chromosome abnormalities. This includes abnormalities that cannot be accurately characterized by chromosome analysis or CMA, such as unusual structural alterations, and unbalanced chromosome abnormalities such as deletions, duplications, and translocations. Scoring large numbers of interphase nuclei can more accurately establish the frequency of chromosome abnormalities.

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

An interpretive report will be provided.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test should not be ordered without prior consultation and approval by the laboratory.

 

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Remstein ED, Dogan A, Einerson RR, et al: The incidence and anatomic site specificity of chromosomal translocations in primary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) in North America. Am J Surg Pathol. 2006 Dec;30(12):1546-1553

2. Fonseca R, Blood E, Rue M, et al: Clinical and biologic implications of recurrent genomic aberrations in myeloma. Blood. 2003 Jun 1;101(11):4569-4575

3. Van Dyke DL, Shanafelt TD, Call TG, et al: A comprehensive evaluation of the prognostic significance of 13q deletions in patients with B-chronic lymphocytic leukaemia. Br J Haematol. 2010 Feb;148(4):544-550

4. Wiktor A, Van Dyke DL: FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med. May-Jun 2004;6:132-135

5. Swerdlow SH, Campo E, Harris NL, eds, et al: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC; 2017

6. American College of Medical Genetics and Genomics (ACMG): Technical Standards and Guidelines for Clinical Genetics Laboratories. ACMG; 2008. Updated January 2018. Accessed July 27, 2022. Available at www.acmg.net/PDFLibrary/Standards-Guidelines-Cytogenetics.pdf

Method Description
Describes how the test is performed and provides a method-specific reference

This test is performed using commercially available and laboratory-developed probes. Depending on the indication for testing, analysis of metaphase cells or interphase nuclei is performed. Two technologists analyze each probe set and all results are reported indicating presence, absence, or rearrangement of the gene region being interrogated. If interphase nuclei are scored, the results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

9 to 10 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Amniotic fluid (remaining supernatant/whole fluid aliquots): Discarded 14 days after report; Blood: 4 weeks; Products of Conception (identifiable fetal tissue): Cremated quarterly after results reported; All other specimens: Discarded when results reported

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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.

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88273 w/modifier 52-Chromosomal in situ hybridization, less than 10 cells (if appropriate)

88273-Chromosomal in situ hybridization, 10-30 cells (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

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
MISCF Miscellaneous Studies, FISH 62367-8
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.
52163 Result Summary 50397-9
52165 Interpretation 69965-2
52164 Result Table 93356-4
54586 Result 62356-1
CG746 Reason for Referral 42349-1
CG943 Specimen 31208-2
52167 Source 31208-2
52168 Tissue ID 80398-1
52169 Method 85069-3
55028 Additional Information 48767-8
52170 Released By 18771-6
53829 Disclaimer 62364-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports