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Uniparental Disomy
Clinical Genetic Test
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offered by
Genetics Laboratory
GTR Test Accession: Help GTR000521642.2
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2016-03-07
View version history
Last annual review date for the lab: 2023-02-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (10): Help
Motor developmental delay due to 14q32.2 paternally expressed gene defect; Angelman syndrome; Beckwith-Wiedemann syndrome more...
Chromosomal regions/ Mitochondria (1): Help
STR or polymorphic markers
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Testing may be appropriate in fetuses with complete trisomy in …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
UPD
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. For DNA testing blood should be collected in EDTA or ACD tubes; cultured prenatal specimens.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal testing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 10
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 *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Testing may be appropriate in fetuses with complete trisomy in the CVS sample and mosaic trisomy in the amniotic fluid sample, and fetuses with ultrasound anomalies associated with maternal and/or paternal uniparental disomy.
View citations (1)
  • 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.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Allele sizes are compared to known controls
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Validity percent meets CAP requirements. More information available upon request.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
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.