Tyrosinemia Type III
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000282368.1
CAP
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2012-12-08
Last annual review date for the lab: 2023-10-09 LinkOut
At a Glance
Screening
Tyrosinemia type III
4-hydroxyphenylacetic acid; 4-hydroxyphenyllactic acid; 4-hydroxyphenylpyruvic acid; N-acetyltyrosine; Tyrosine
Biochemical Genetics - Analyte: Ion Exchange Chromatography; Tandem mass spectrometry (MS/MS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
Specimen Source: Help
Contact Policy: Help
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.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 5
Analyte Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Analyte
Ion Exchange Chromatography
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Urine organic acids and plasma amino acids have a CV of less than 10%.
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

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.