#ExistInterpData>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
||Carnitine Deficiency (Primary Carnitine Deficiency (SLC22A5) Sequencing)
, OCTN2 Sequencing (Primary Carnitine Deficiency (SLC22A5) Sequencing)