Test Id : XYMF
Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test is only appropriate to detect low levels of sex chromosome mosaicism when a nonmosaic 45,X karyotype has been observed.
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 |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | 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 |
| _PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
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
Turner syndrome mosaicism
XY mosaicism
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Specimen Type
Describes the specimen type validated for testing
Whole blood
Ordering Guidance
This test does not detect other chromosomal or structural anomalies and is intended to be ordered after a complete chromosome analysis.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
A reason for testing must be provided. The laboratory will not reject testing if this information is not provided however an applicable indication for testing may be entered by Mayo Clinic Laboratories. Appropriate testing and interpretation may be compromised or delayed.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| CG668 | Reason for Referral |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 4 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.
4. Cord blood is acceptable
Additional Information:
1. If the specimen does not grow in culture, you will be notified within 7 days of receipt.
2. Specimen cannot be frozen.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
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:
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.
2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
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 |
|---|---|---|---|
| Whole blood | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test is only appropriate to detect low levels of sex chromosome mosaicism when a nonmosaic 45,X karyotype has been observed.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
This test is appropriate for use in individuals with a karyotype of 45, X.
Ullrich-Turner syndrome (UTS), also called Turner syndrome, is a genetic disorder associated with the apparent loss of a sex chromosome. Routine cytogenetic methods have identified 3 types of chromosomal abnormalities in UTS patients: loss of an entire X chromosome (45,X), structural X chromosome abnormalities, and mosaicism with an X or Y abnormality. In mosaicism, 2 or more populations of cells with different karyotypes are present (eg, 45,X/47,XXX).
The incidence of UTS is approximately 1 in 3000 phenotypic female newborns. Many of these patients demonstrate the 45,X karyotype. About 30% to 50% are mosaic, with either a 45,X/46,XX karyotype or a structurally abnormal X chromosome. Fewer than 15% of patients with UTS appear to have mosaicism with a 46,XY cell population or a Y chromosome rearrangement.
Identifying the mosaic status of patients with UTS is of clinical importance because phenotypic expression and clinical management are dependent upon the karyotype result. Patients with a Y chromosome have a 15% to 25% increased risk of gonadoblastoma.
Failure to identify an XY signal pattern does not rule out the possibility of less than 0.6% Y chromosome mosaicism.
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 XX clone is confirmed when at least 1.0% of cells display with 2 X chromosome signals. An XY clone is confirmed when at least 0.6% of cells display a 1 X and 1 Y signal pattern.
Phenotypic females with a 45,X/46,XX karyotype have no increased risk of gonadoblastoma and generally have a more moderate expression of Turner syndrome features than phenotypic females with a nonmosaic 45,X karyotype. The presence of a Y chromosome confers increased risk of gonadoblastoma.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct with other established methods to confirm an X or Y chromosome mosaicism diagnoses, such as existing clinical history or physical evaluation.
Interfering factors
-Cell lysis caused by forcing the blood quickly through the needle
-Use of an improper anticoagulant (sodium heparin is best) or improperly mixing the blood with the anticoagulant
-Excessive transport time
-Inadequate amount of specimen may not permit adequate analysis
-Improper packaging may result in broken, leaky, and contaminated specimen during transport.
-Exposure of the specimen to temperature extremes (either freezing or >30 degrees C) may kill cells and interfere with attempts to culture cells
-In prenatal specimens, a bloody specimen may interfere with attempts to culture cells and contamination by maternal cells may cause interpretive problems
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Canto P, Kofman-Alfaro S, Jiminez AL, et al. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet Cytogenet. 2004;150(1):70-72
2. Wiktor A, Van Dyke DL. FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med. 2004;6(3):132-135
3. Sybert VP, McCauley E. Turner syndrome. N Engl J Med. 2004;351:1227-1238
4. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-G70
Method Description
Describes how the test is performed and provides a method-specific reference
This test is performed using a commercially available enumeration strategy probe set for the centromere regions of the X (DXZ1) and Y (DYZ3) chromosomes. The probe set is hybridized to the appropriate target areas, and 2 technologists independently analyze 250 interphase nuclei (500 total) to determine the sex chromosome complement.(Wiktor A, Van Dyke DL. FISH analysis helps identify low level mosaicism in Ullrich-Turner syndrome patients. Genet Med. 2004;6(3):132-135)
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.
- 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 account representative. 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 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
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.
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)
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)
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 |
|---|---|---|
| XYMF | Known 45,X Mosaicism Reflex, FISH | 87436-2 |
| 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.
|
|---|---|---|
| 51844 | Result Summary | 50397-9 |
| 51846 | Interpretation | 69965-2 |
| 54537 | Result | 62356-1 |
| CG668 | Reason for Referral | 42349-1 |
| 51847 | Specimen | 31208-2 |
| 51848 | Source | 31208-2 |
| 51849 | Method | 85069-3 |
| 54451 | Additional Information | 48767-8 |
| 51850 | Released By | 18771-6 |
| 55279 | Disclaimer | 62364-5 |