ARUP's Laboratory Test Directory

Primary Carnitine Deficiency (SLC22A5) Sequencing : 0051682
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Patient History for Primary Carnitine (SLC22A5) Testing
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Additional Technical Information


Mnemonic: PCD FGS

Ordering Recommendation: Diagnostic testing for primary carnitine deficiency. Carrier screening for primary carnitine deficiency.
Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies
Reported: 14-21 days
Specimen Required: Collect: Contact ARUP's genetic counselor at (800) 242-2787 ext. 2946 prior to test submission.
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B) tube. Also acceptable: Two T-25 flasks of cultured fibroblasts to 80% confluence. If the client is unable to culture fibroblasts, this can be arranged by contacting ARUP Client Services at (800) 522-2787.

Specimen Preparation: Transport 3 mL whole blood (Min: 1 mL). OR fill two T-25 flasks with culture media (Min: One T-25 flask). Backup cultures must be retained at the client's institution until testing is complete.

Storage/Transport Temperature: Whole blood: Refrigerated.
Cultured fibroblasts: Room temperature.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.



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

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81479
Cross References: Carnitine Deficiency (Primary Carnitine Deficiency (SLC22A5) Sequencing) , OCTN2 Sequencing (Primary Carnitine Deficiency (SLC22A5) Sequencing)