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Test ID: UCDP    
Urea Cycle 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 urea cycle disorder (UCD)

 

Establishing a molecular diagnosis for patients with a UCD

 

Identifying variants within genes known to be associated with UCD, 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 16 genes associated with urea cycle disorders (UCD). This test includes next-generation sequencing to test for variants in the genes indicated: ALDH18A1, ARG1, ARG2, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC7A7, UMPS. See Method Description for additional details.

 

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

 

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.

No

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

Urea Cycle Disorders Gene Panel

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

NextGen Sequencing Test
Argininemia
Argininosuccinic aciduria
Citrullinemia
Hyperammonemia
Ornithine transcarbamylase (OTC) deficiency