Detecting sex chromosome mosaicism in patients with a 45,X karyotype
Only appropriate to detect low levels of sex chromosome mosaicism when a nonmosaic 45,X karyotype has been observed.
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 |
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Fluorescence In Situ Hybridization (FISH)
Turner syndrome mosaicism
XY mosaicism
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Whole blood
Question ID | Description | Answers |
---|---|---|
CG668 | Reason for Referral |
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.
Container/Tube: Green top (sodium heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2 mL
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | ||
Refrigerated |
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
Only appropriate to detect low levels of sex chromosome mosaicism when a nonmosaic 45,X karyotype has been observed.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
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 3,000 newborn girls. 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 <0.6% Y chromosome mosaicism.
An interpretive report will be provided.
An XX clone is confirmed when > or =1.0% cells display with 2 X chromosome signals. An XY clone is confirmed when > or =0.6% cells display a 1 X and 1 Y signal pattern.
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 females with a nonmosaic 45,X karyotype. The presence of a Y chromosome confers increased risk of gonadoblastoma.
Because this FISH test is not approved by the U.S. Food and Drug Administration, it is important to confirm X or Y chromosome mosaicism by other established methods, such as clinical history or physical evaluation.
Interfering factors
-Cell lysis caused by forcing the blood quickly through the needle
-Use of an improper anticoagulant 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 (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
In a group of 22 patients with a nonmosaic 45,X karyotype by conventional cytogenetics, we have identified 3 (14%) patients with a mosaic X/XX result using FISH analysis. These results were confirmed by analysis of additional metaphase cells. Of the 3 patients, 2 have an iso(X) chromosome and 1 has what appears to be a structurally normal X chromosome.
The potential of maternal cells in the peripheral circulation of newborn females with a 45,X/46,XX karyotype result was investigated. Thirty specimens from newborn males (<2 days old) were tested, and based on the analysis of 500 interphase nuclei from each specimen, no XX cells were identified in any specimen, suggesting a low likelihood of maternal cells in newborn specimens.
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;150:70-72
2. Wiktor A, Van Dyke, DL: FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med 2004;6:132-135
3. Sybert VP, McCauley E: Turner syndrome. N Engl J Med 2004;351:1227-1238
This test is performed using commercially available probes for the centromere regions of the X (DXZ1) and Y (DYZ3) chromosomes. A total of 500 interphase nuclei (250 each by 2 technologists) are examined 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;6:132-135)
Monday through Friday
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.
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)
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 |