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

Test Information

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

Clinical Information

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.

Indications

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.

Methodology

Sanger Sequencing

Detection

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.

Specimen Requirements

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.

Transport Instructions

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 Testing Information

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Sanger Sequencing
Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

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