Chromosome 14 UPD Analysis
GTR Test Accession: Help GTR000562507.8
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-04-28
Last annual review date for the lab: 2023-04-28 LinkOut
At a Glance
Diagnosis
Motor developmental delay due to 14q32.2 paternally expressed gene defect; Paternal uniparental disomy of chromosome 14
STR or polymorphic markers
Molecular Genetics - Uniparental disomy study (UPD): Short Tandem Repeat (STR) marker analysis by PCR and capillary electrophoresis
Not provided
Not provided
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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
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
kwalden@ggc.org
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
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Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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