Amino acid, plasma, quantitative
GTR Test Accession: Help GTR000568294.2
CAP
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2022-01-12
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Diagnosis; Monitoring
Disorder of amino acid metabolism; Arginine:glycine amidinotransferase deficiency; Creatine transporter deficiency; ...
Alanine; Alloisoleucine; Alpha-amino-n-butyrate; Alpha-aminoadipate; Arginine; ...
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Individuals with symptoms associated with inherited disorders of amino acid …
Not provided
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
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:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Values are accurate within 20% of the expected concentration
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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