Test Catalog

Test ID: PHEGP    
Phenylalanine Disorders Gene Panel, Varies

Method Description Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed. NGS and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.


There may be regions of genes that cannot be effectively amplified for sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.


PCR-based methods and/or Sanger sequencing is used to confirm variants detected by NGS when appropriate.(Unpublished Mayo method)


See Targeted Genes and Methodology Details for Phenylalanine Disorders Gene Panel in Special Instructions for details regarding the targeted gene regions for this test.


Genes analyzed: DDC, DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SLC18A2, SPR, TH

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test