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Amino acid, plasma, quantitative
Clinical Genetic Test
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offered by
IU Genetic Testing Laboratories
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GTR Test Accession: Help GTR000568294.2
CAP
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2022-01-12
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring
Conditions (8): Help
Disorder of amino acid metabolism; Arginine:glycine amidinotransferase deficiency; Creatine transporter deficiency more...
Analytes (34): Help
Alanine; Alloisoleucine; Alpha-amino-n-butyrate; Alpha-aminoadipate; Arginine more...
Methods (1): Help
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: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
IU Genetic Testing Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Lab contact: Help
Marcus Miller, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
317-274-7597
Contact Policy: Help
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: Help
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 34
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring
Target population: Help
Individuals with symptoms associated with inherited disorders of amino acid metabolism/transport, organic acid metabolism, peroxisome biogenesis, or pyridoxine responsive epilepsy. This test is also useful for newborn screen follow-up and clinical management in some cases.
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Values are accurate within 20% of the expected concentration
View citations (1)
  • none
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Category: FDA exercises enforcement discretion
Additional Information

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.