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Test ID UCDP Urea Cycle Disorders Gene Panel, Varies

Ordering Guidance

The recommended first-tier biochemical tests to screen for urea cycle disorders  are a combination of quantitative plasma amino acids and urinary orotic acid. Order AAQP/ Amino Acids, Quantitative, Plasma and OROT/ Orotic Acid, Random, Urine.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing  (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

Useful For

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

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.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Urea Cycle Disorders Gene Panel

Specimen Type


Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
UCDP Urea Cycle Disorders Gene Panel In Process


Result ID Test Result Name Result LOINC Value
608644 Test Description 62364-5
608645 Specimen 31208-2
608646 Source 31208-2
608647 Result Summary 50397-9
608648 Result 82939-0
608649 Interpretation 69047-9
608650 Resources 99622-3
608651 Additional Information 48767-8
608652 Method 85069-3
608653 Genes Analyzed 48018-6
608654 Disclaimer 62364-5
608655 Released By 18771-6

NY State Approved


Day(s) Performed


Report Available

3 to 4 weeks