| Interpretive Data: |
Background information for Primary Carnitine Deficiency (SLC22A5) Sequencing and 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: Pathogenic SLC22A5 gene mutations.
Clinical Sensitivity: May be as high as 95 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of SLC22A5 gene; 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; deep intronic mutations and promoter mutations in the SLC22A5 gene 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis;
DelDup: 83896 Nucleic acid probes; 83898 Amplification; 83914 Extension; 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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Cross References: |
Carnitine Deficiency (Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication)
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