Ordering Recommendation

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).


Polymerase Chain Reaction/Sequencing




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.
Specimen Required
Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval
Interpretive Data

Background information for Primary Carnitine Deficiency (SLC22A5) Sequencing:
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: Deleterious SLC22A5 gene mutations causing a non-functional protein (OCTN2).
Clinical Sensitivity: Approximately 82 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron/exon boundaries of SLC22A5 gene.
Analytical Sensitivity: Greater than 99 percent.
Limitations: Mutations in genes other than SLC22A5 will not be detected; large deletions, deep intronic mutations and promoter mutations in the SLC22A5 gene are not detected by this assay; analytical sensitivity may be compromised by rare primer site mutations. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
CPT Codes


Component Test Code* Component Chart Name LOINC
0051681 PCD Sequencing Interpretation
2001371 PCD FGS Specimen
* 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.
  • OCTN2 Sequencing
  • SLC22A5 sequencing
Primary Carnitine Deficiency (SLC22A5) Sequencing