Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
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 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.
For more information see Advisory Information.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.