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Test ID: PHEGP    
Phenylalanine Disorders Gene Panel, Varies

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

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

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 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.

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.

Yes

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

Phenylalanine Disorders Gene Panel

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

NextGen Sequencing Test
Aromatic L-amino acid decarboxylase
PAH deficiency
Phenylalanine hydroxylase deficiency
Hyperphenylalaninemia