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Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000560369.4
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2024-05-10
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Turner syndrome
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - FISH-interphase: Fluorescence in situ hybridization (FISH)
Target population: Help
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
XYMF
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
FISH-interphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
View citations (3)
  • Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Canto P, et al. Cancer Genet Cytogenet. 2004;150(1):70-2. doi:10.1016/j.cancergencyto.2003.08.011. PMID: 15041227.
  • FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Wiktor A, et al. Genet Med. 2004;6(3):132-5. doi:10.1097/01.gim.0000127270.49902.56. PMID: 15354330.
  • Turner's syndrome. Sybert VP, et al. N Engl J Med. 2004;351(12):1227-38. doi:10.1056/NEJMra030360. PMID: 15371580.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
l detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
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.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.