GTR Test Accession:
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GTR000521642.2
Last updated in GTR: 2016-03-07
View version history
GTR000521642.2, last updated: 2016-03-07
GTR000521642.1, last updated: 2015-03-15
Last annual review date for the lab: 2023-02-08
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (10):
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Motor developmental delay due to 14q32.2 paternally expressed gene defect;
Angelman syndrome;
Beckwith-Wiedemann syndrome
more...
STR or polymorphic markers
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Testing may be appropriate in fetuses with complete trisomy in …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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UPD
Specimen Source:
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- 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:
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Contact Policy:
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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:
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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:
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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
Genetic counseling
Prenatal testing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 10
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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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:
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Allele sizes are compared to known controls
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Validity percent meets CAP requirements. More information available upon request.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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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.