|Disorder||Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency|
CPT1A deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation with three variable phenotypes described. Generally, individuals experience a rapid onset of symptoms with a precipitating illness or fasting.
The hepatic encephalopathy usually presents in early childhood following fasting or an illness, but may also present as hypoglycemia in an infant. The acute illness can be life-threatening. Individuals are expected to have normal development and cognition unless neurological damage occurs during the episodes of decompensation.
Less common phenotypes include a possible adult-onset myopathyic presentation and an acute fatty liver of pregnancy in a female carrier where the fetus has CPT1A deficiency.
|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 an acylcarnitine profile are available in the Biochemical Diagnostic Laboratory.|
|Detection||Sequencing of the CPT1A gene will detect a mutataion in more than 90% of individuals with deficient enzyme activity.|
|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||$1600 for sequencing
$350 for known mutation
$700 for deletion/duplication analysis
Prenatal diagnosis for known mutation is $1000. Please contact the laboratory 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.