GTR Test Accession:
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GTR000561954.1
Last updated in GTR: 2018-10-19
View version history
GTR000561954.1, last updated: 2018-10-19
Last annual review date for the lab: 2024-09-06
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Motor developmental delay due to 14q32.2 paternally expressed gene defect
Chromosome 14
Methods (2):
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Molecular Genetics - Methylation analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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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,
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 1
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: 2
Method Category
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Test method
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Instrument *
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Uniparental disomy study (UPD)
STRs
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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Polyphen-2, SIFT, Mutationtaster, MutationAssesor, Human Splicing Finder, AASsites
Polyphen-2, SIFT, Mutationtaster, MutationAssesor, Human Splicing Finder, AASsites
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.