Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000506202.8
CAP
Last updated in GTR:
2022-06-23
View version history
GTR000506202.8,
last updated:
2022-06-23
GTR000506202.7,
last updated:
2021-07-13
GTR000506202.6,
last updated:
2020-07-15
GTR000506202.5,
last updated:
2020-07-02
GTR000506202.4,
last updated:
2019-07-26
GTR000506202.3,
last updated:
2018-07-25
GTR000506202.2,
last updated:
2014-08-05
GTR000506202.1,
registered in GTR:
2014-03-07
Last annual review date for the lab: 2024-06-28
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (26):
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Medium-chain acyl-coenzyme A dehydrogenase deficiency;
3-methylcrotonyl-CoA carboxylase 1 deficiency;
3-methylglutaconic aciduria type 1
more...
Analytes (22):
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3-Hydroxybutyrylcarnitine (C4-OH);
3-Hydroxyisovalerylcarnitine (C5-OH);
3-Hydroxyoleoylcarnitine (C18:1-OH);
3-Hydroxypalmitoleylcarnitine (C16:1-OH);
3-Hydroxypalmitoylcarnitine (C16-OH)
more...
Methods (1):
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Biochemical Genetics - Analyte: 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
Test Order Code:
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14531
Lab contact:
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Biochemical Genetic Department, ,
949-728-4423 or 949-728-4817
949-728-4423 or 949-728-4817
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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Informed consent required:
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Based on applicable state law
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 strategy,
Test development
Conditions
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Total conditions: 26
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 22
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
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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LOQ = 0.02 nmol/ml. Accuracy +- 15-20%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.