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Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication
2004203
Ordering Recommendation

Preferred molecular (DNA) test to confirm a diagnosis of primary carnitine deficiency following clinical and/or biochemical presentation. To diagnose or rule out primary carnitine deficiency, refer to Carnitine, Free & Total (Includes Carnitine, Esterified) (0080068) and Carnitine, Free and Total, Urine (0081308).

Mnemonic
PCD FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
28-35 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: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background information for Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication:
Characteristics: Hypoketotic hypoglycemia during periods of fasting, hepatomegaly, Reye syndrome, sudden infant death, developmental delay, cardiac and/or skeletal myopathy, hypotonia and enlarged heart.
Incidence: 1 in 40,000 for European Caucasian and Japanese, lower in other populations.
Inheritance: Autosomal recessive.
Cause: Pathogenic SLC22A5 gene mutations.
Clinical Sensitivity: May be as high as 95 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of SLC22A5 gene; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large SLC22A5 coding region deletions/duplications.
Analytical Sensitivity: Greater than 99 percent.
Limitations: Mutations in genes other than SLC22A5 will not be detected; deletion/duplication breakpoints will not be determined; deep intronic mutations and promoter mutations in the SLC22A5 gene will not be detected. Mutations within the primer/probe regions could affect the analytical sensitivity of this assay. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81405; 81479
Components
Component Test Code*Component Chart NameLOINC
2004204PCD FGA Specimen
2004205Primary Carnitine Deficiency Interpretat
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Aliases
  • Carnitine Deficiency
  • SLC22A5 sequencing and deletion/duplication assay