Test Catalog

Test ID: TYRGP    
Tyrosine Disorders Gene Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Follow up for abnormal biochemical results suggestive of a tyrosine disorder


Establishing a molecular diagnosis for patients with tyrosine disorders


Identifying variants within genes known to be associated with tyrosine disorders, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next generation sequencing to detect single nucleotide and copy number variants in 4 genes associated with tyrosine disorders: FAH, HGD, HPD, TAT. See Targeted Genes and Genomic Regions in Special Instructions and Method Description for additional details.

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for tyrosine disorders.

Additional first tier testing may be considered/recommended. Please see Testing Algorithm for further information.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Tyrosine Disorders Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
Fumarylacetoacetase deficiency