Succinyl CoA : 3-oxoacid CoA transferase Deficiency : OXCT1 Sequencing

OXCT1 sequencing is a molecular test used to identify variants in the gene associated with Succinyl CoA : 3-oxoacid CoA transferase Deficiency.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$1,000

Genes

SCOT deficiency is a rare, autosomal recessive metabolic disorder characterized by ketoacidotic attacks. The SCOT enzyme helps break down ketones, an important source of energy during time of increased energy demands so affected individuals typically have persistant ketosis with ketoacidotic attacks being triggered by illness, fasting, or other stressors. These events, which can vary in frequency, include lethargy, vomiting, rapid breathing and even seizures.

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Sanger Sequencing

While it is expected that a majority of causative mutations in affected will be detected by sequencing the coding region of the OXCT1 gene, limited information is available regarding specific clinical detection of this analysis.

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal diagnosis is available if the familial mutations are 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.