GTR Test Accession:
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GTR000282352.1
Last updated in GTR: 2012-12-08
View version history
GTR000282352.1, last updated: 2012-12-08
Last annual review date for the lab: 2024-10-10
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At a Glance
Test purpose:
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Screening
Conditions (1):
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Propionic acidemia
Analytes (4):
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3-hydroxypropionic acid;
Propionylcarnitine;
Propionylglycine;
Tiglylglycine
Methods (2):
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Biochemical Genetics - Analyte: Gas Chromatography-Mass Spectrometry; Tandem mass spectrometry (MS/MS)
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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Specimen Source:
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- Plasma
- Urine
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
How to Order,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 4
Analyte | Associated Condition |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Analyte
Gas Chromatography-Mass Spectrometry
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
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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Urine organic acids and plasma acylcarnitines have a CV of less than 10%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Practice guidelines:
Consumer resources:
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.