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Chromosome 14 UPD Analysis
Clinical Genetic Test
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offered by
Greenwood Genetic Center Diagnostic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000562507.8
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-04-28
View version history
Last annual review date for the lab: 2024-04-17 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Motor developmental delay due to 14q32.2 paternally expressed gene defect; Paternal uniparental disomy of chromosome 14
Chromosomal regions/ Mitochondria (1): Help
STR or polymorphic markers
Methods (1): Help
Molecular Genetics - Uniparental disomy study (UPD): Short Tandem Repeat (STR) marker analysis by PCR and capillary electrophoresis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Greenwood Genetic Center Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
334-246-3647
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
Please complete the appropriate laboratory requisition form with the following information:
- patient identification and demographics
- referring provider information
- billing details
- patient diagnosis and/or clinical information
- clearly mark the test(s) you wish to order

A copy of the completed requisition …
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Order URL
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, Test strategy, Test development
Conditions Help
Total conditions: 2
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)
Short Tandem Repeat (STR) marker analysis by PCR and 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?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
UPD 14 causes approximately 78% of cases of Temple syndrome.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
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
Not provided
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.