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Paternal Uniparental Disomy, Chromosome 14
Clinical Genetic Test
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offered by
Center for Human Genetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000323955.3
CAP
INHERITED DISEASEDYSMORPHOLOGY
Last updated in GTR: 2016-10-05
View version history
Last annual review date for the lab: 2021-10-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Paternal uniparental disomy of chromosome 14
Chromosomal regions/ Mitochondria (1): Help
Chromosome 14
Methods (1): Help
Molecular Genetics - Uniparental disomy study (UPD): PCR Followed by Fluorescent Fragment Analysis via Capillary Electrophoresis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Center for Human Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
UPD 14
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
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
Test additional service: Help
Custom Prenatal Testing
Informed consent required: Help
Based on applicable state law
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, 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 *
Uniparental disomy study (UPD)
PCR Followed by Fluorescent Fragment Analysis via Capillary Electrophoresis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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 Comments: Help
Parental blood samples required
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% Sensitivity
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, 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
Not provided
Additional Information

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