Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Follow up for abnormal biochemical results suggestive of a phenylalanine disorder
Establishing a molecular diagnosis for patients with phenylalanine disorders
Identifying variants within genes known to be associated with phenylalanine 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 10 genes associated with phenylalanine disorders: DDC, DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SLC18A2, SPR, TH. See Targeted Genes and Methodology Details for Phenylalanine Disorders Gene Panel 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 phenylalanine 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