Tyrosinemia Follow Up Panel, BS
GTR Test Accession: Help GTR000597416.3
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2024-02-28
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis; Monitoring
Tyrosinemia type I
Tyrosine, Phenylalanine, Methionine, Succinylacetone, Nitisinone
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Diagnosis and monitoring of individuals with tyrosinemia type I (HT-1)
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
TYRBS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Specimen/607550
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
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: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
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
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12). doi:10.1038/gim.2017.101. Epub 2017 Aug 03. PMID: 28771246.

Target population: Help
Diagnosis and monitoring of individuals with tyrosinemia type I (HT-1)
View citations (2)
  • Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12). doi:10.1038/gim.2017.101. Epub 2017 Aug 03. PMID: 28771246.
  • Laeremans H, Turner C, Andersson T, de Juan JAC, Gerrard A, Heiner-Fokkema MR, Herebian D, Janzen N, la Marca G, Rudebeck M. Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples. JIMD Rep. 2020;53(1):90-102. doi:10.1002/jmd2.12112. Epub 2020 Apr 04. PMID: 32395414.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed via analysis of proficiency testing specimens. Of the 12 samples analyzed all results were within 3 standard deviations for NTBC, phenylalanine, and tyrosine. One sample was outside of 3SD for methionine and one sample outside of 3SD for succinylacetone; both results were just slightly high and accuracy … View more
Assay limitations: Help
Bornaprine (brand name: Sormodrem) may, at least in theory, interfere with accurate measurement of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC). In rare cases of tyrosinemia type I, tyrosine or succinylacetone may not be elevated.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS

Description of PT method: Help
Formal PT program

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
VUS:
Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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