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Uniparental Disomy
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 GTR000593342.2
CAP
INHERITED DISEASESYNDROMIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2024-04-16
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Autosomal uniparental disomy; Angelman syndrome due to paternal uniparental disomy of chromosome 15; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 more...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Molecular Genetics - Uniparental disomy study (UPD): Polymerase Chain Reaction (PCR)/Microsatellite markers
Target population: Help
Individuals with clinical features of disorders known to be associated …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
UNIPD
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
Lab contact: Help
Huong Cabral, MS, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Specimen/35566
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: UNIPD
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test strategy
Conditions Help
Total conditions: 6
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 *
Uniparental disomy study (UPD)
Polymerase Chain Reaction (PCR)/Microsatellite markers
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (4)
  • American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Shaffer LG, et al. Genet Med. 2001;3(3):206-11. doi:10.1097/00125817-200105000-00011. PMID: 11388763.
  • Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Kotzot D, et al. Am J Med Genet A. 2005;136(3):287-305. doi:10.1002/ajmg.a.30483. PMID: 15957160.
  • Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14(11):1158-69. doi:10.1038/sj.ejhg.5201619. Epub 2006 May 17. PMID: 16724013.
  • Prenatal testing for uniparental disomy: indications and clinical relevance. Kotzot D, et al. Ultrasound Obstet Gynecol. 2008;31(1):100-5. doi:10.1002/uog.5133. PMID: 18059071.

Target population: Help
Individuals with clinical features of disorders known to be associated with uniparental disomy. Individuals with mosaicism, confined placental mosaicism, or Robertsonian translocations. Evaluation of disease mechanism in individuals with rare autosomal recessive disease and only one carrier parent.
View citations (4)
  • American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Shaffer LG, et al. Genet Med. 2001;3(3):206-11. doi:10.1097/00125817-200105000-00011. PMID: 11388763.
  • Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Kotzot D, et al. Am J Med Genet A. 2005;136(3):287-305. doi:10.1002/ajmg.a.30483. PMID: 15957160.
  • Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14(11):1158-69. doi:10.1038/sj.ejhg.5201619. Epub 2006 May 17. PMID: 16724013.
  • Prenatal testing for uniparental disomy: indications and clinical relevance. Kotzot D, et al. Ultrasound Obstet Gynecol. 2008;31(1):100-5. doi:10.1002/uog.5133. PMID: 18059071.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All 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
Yes. Contact lab for details

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.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
A polymerase chain reaction (PCR)-based assay, using multiple microsatellite markers (dinucleotide repeats) for the particular chromosome being tested, is used to test DNA from parents and child for the presence of uniparental disomy.
Test Confirmation: Help
Positive results are confirmed when appropriate.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and accuracy are ≥ 99%.
Assay limitations: Help
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. This test will detect nonpaternity. Uniparental disomy (UPD) may not be detected by our assay in cases where … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
Consumer resources:

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.