| Interpretive Data: |
Background information for Primary Carnitine Deficiency:
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.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| CPT Code(s): |
83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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