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Citrin Deficiency (SLC25A13) Sequencing
2006261
Ordering Recommendation

Use to confirm a diagnosis of citrullinemia type II (or citrin deficiency) following clinical and/or biochemical findings.

Mnemonic
CITRIN FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Citrin Deficiency (SLC25A13) Sequencing
Characteristics:
Citrin deficiency is a urea cycle disorder resulting in two distinct phenotypes: citrullinemia type II (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). CTLN2 is characterized by adult onset recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms. NICCD is characterized by transient intrahepatic cholestasis in infancy.
Incidence: Varies by population. Approximately 1 in 19,000 in individuals of Japanese ethnicity.
Inheritance: Autosomal recessive.
Penetrance: Variable.
Cause: Pathogenic SLC25A13 gene mutations.
Clinical Sensitivity: Approximately 95 percent.
Methodology: Bidirectional sequencing of the entire SLC25A13 coding region and intron/exon boundaries.
Analytical Sensitivity and Specificity: Greater than 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 SLC25A13 are not evaluated.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C under Testing Information at http://www.aruplab.com.

Components
Component Test Code*Component Chart NameLOINC
2006262Citrin Deficiency (SLC25A13) Seq Spcm
2006263Citrin Deficiency (SLC25A13) Seq Interp
* 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.
Aliases