GTR Test Accession:
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GTR000568295.2
CAP
Last updated in GTR:
2022-01-12
View version history
GTR000568295.2,
last updated:
2022-01-12
GTR000568295.1,
registered in GTR:
2021-01-15
Last annual review date for the lab: 2024-01-10
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Monitoring
Conditions (11):
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Disorder of amino acid metabolism;
Arginine:glycine amidinotransferase deficiency;
Combined molybdoflavoprotein enzyme deficiency
more...
Analytes (41):
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Methods (1):
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Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Individuals with symptoms associated with inherited disorders of amino acid …
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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Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Lab contact:
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Marcus Miller, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
317-274-7597
317-274-7597
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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Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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,
Test strategy
Conditions
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Total conditions: 11
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 41
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring
Target population:
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Individuals with symptoms associated with inherited disorders of amino acid metabolism/transport and organic acid metabolism.
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Values are accurate within 20% of the expected concentration
View citations (1)
- none
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,
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:
Consumer resources:
IMPORTANT NOTE:
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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.