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
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|0051681||PCD Sequencing Interpretation|
|2001371||PCD FGS Specimen|
- OCTN2 Sequencing
- SLC22A5 sequencing