| Interpretive Data: |
Background information for Primary Carnitine Deficiency (SLC22A5) 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: Deleterious SLC22A5 gene mutations.
Clinical Sensitivity: Unknown; may be as high as 10-15 percent.
Methodology: 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. SLC22A5 single base pair substitutions, small deletions/duplications, and deep intronic and promoter mutations will not be detected. Mutations within the primer/probe regions could affect the analytical sensitivity of this assay.
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
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| CPT Code(s): |
81479
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Cross References: |
Carnitine Deficiency (Primary Carnitine Deficiency (SLC22A5) Deletion/Duplication)
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