SCOT Deficiency

Disorder Succinyl CoA:3-oxoacid CoA transferase Deficiency
SCOT Deficiency
Gene Name OXCT1
Clinical info 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.
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 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.  Extracted DNA is also accepted.
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 21 days
Prenatal testing 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.
CPT Codes Unknown mutation: 81479

Known mutation: 81403

Deletion/Duplication Analysis: 81479
Cost $1000 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.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

 

ACADS is located on chromosome 12q24 and encodes short chain acyl CoA dehydrogenase, which catalyzes the dehydrogenation of acyl CoA esters with 4 to 6 carbons in length in the process of mitochondrial beta-oxidation of fatty acids.  Mutations in the ACADS gene result in short chain acyl CoA dehydrogenase (SCAD) deficiency, an autosomal recessive disorder that can be asymptomatic, or  could present with neurological features such as developmental delay, hypotonia, myopathy and seizures, as well as acidosis, failure to thrive, lethargy and behavior problems.  The age of onset and severity of clinical features varies considerably

Form Needed

Download molecular-lab-request-form.pdf

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 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.

Find out more