Primary Carnitine Deficiency (SLC22A5) Sequencing
|Disorder||Systemic Primary Carnitine Deficiency|
This is an autosomal recessive disorder resulting from impaired carnitine transport and primarily affects skeletal and cardiac muscle. Muscle weakness and hypertrophic cardiomyopathy are common manifestations. Patients may also present with an acute illness or have recurring episodes of illness which can include hypoglycemia and lethargy as well as hepatic and renal dysfunction.
Individuals with mutations in SLC22A5 will usually have biochemical findings of low plasma carnitine and elevated urine carnitine. Systemic primary carnitine deficiency is effectively treated with dietary supplementation of carnitine.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
|Associated Tests||Plasma carnitine (total and free) and urine carnitine (total and free) are available through the Biochemical Diagnostic Laboratory to screen for this disorder.|
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||2 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation: 81479
Known mutation: 81479
Deletion/Duplication Analysis: 81229
|Cost||$1000 for sequencing
$350 for known mutation
$700 for deletion/duplication analysisPrenatal diagnosis for a known mutation is $1000. Please contact the lab for more information.
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.