Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
Molecular (DNA) test to confirm a diagnosis of citrullinemia type I following clinical and/or biochemical presentation. To diagnose or rule out citrullinemia type I, refer to Amino Acids Quantitative by LC-MS/MS, Plasma (2009389).
MnemonicUnique test identifier.
ASS1 FGS
MethodologyProcess(es) used to perform the test.
Polymerase Chain Reaction/Sequencing
PerformedDays of the week the test is performed.
Varies
ReportedExpected turnaround time for a result, beginning when ARUP has received the specimen.
14-21 days
New York DOH Approval StatusIndicates test has been approved by the New York State Department of Health.
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Background Information for Citrullinemia, Type I (ASS1) Sequencing: Characteristics: Classic citrullinemia type I is a urea cycle disorder characterized by hyperammonemia, lethargy, vomiting, coma and neonatal death if not treated. There is also a milder, late-onset form and a form in which women have onset of severe symptoms during pregnancy or postpartum. Incidence: Approximately 1 in 57,000. Inheritance: Autosomal recessive. Penetrance: Variable. Cause: Pathogenic ASS1 gene mutations. Clinical Sensitivity: Approximately 96 percent. Methodology: Bidirectional sequencing of the entire ASS1 coding region and intron/exon boundaries. Analytical Sensitivity and Specificity: 99 percent. Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than ASS1 are not evaluated.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
AliasesOther names that describe the test. Synonyms.
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