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GTR Home > Tests > Urea Cycle Disease Panel

Overview

Test name

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Urea Cycle Disease Panel (UCD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Drug Response, Mutation Confirmation, Prognostic

Condition

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Click Indication tab for more information.

How to order

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Complete and physician signed requisition required with pedigree and clear clinical diagnosis. Requisition available on lab website if required. Please draw 4 ml EDTA whole blood and ship by overnight courier to the lab address (weekdays only)
Order URL Help: http://www.lhsc.on.ca/palm/molecular/panels.html#urea

Specimen source

Cell culture
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
  • Affymetrix CytoScan HD Array
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Applied Biosystems 3730 capillary sequencing instrument
  • Illumina MiSeq/NextSeq
  • Affymetrix CytoScan HD Array

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Testing strategy

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All coding exons and 20 bp of flanking intronic sequence are enriched using an LHSC custom targeted hybridization protocol (Roche Nimblegen), followed by high throughput sequencing (Illumina). Sequence variants and copy number changes are assessed and interpreted using clinically validated algorithms and commercial software (SoftGenetics: Nextgene, Geneticist Assistant, Mutation Surveyor; and Alamut Visual). All exons have >1000x mean read depth coverage, with a minimum 200x coverage at a single nucleotide resolution. This assay meets the sensitivity and specificity of combined Sanger sequencing and MLPA copy number analysis. All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon reques 000 Complete and physician signed requisition required with pedigree and clear clinical diagnosis. Requisition available on lab website if required. Please draw 4 ml EDTA whole blood and ship by overnight courier to the lab address (weekdays only)

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Confirmation of research findings, comments
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.