Short-Chain Acyl-CoA Dehydrogenase Deficiency : ACADS Sequencing

Test Information

ACADS sequencing is a molecular test used to identify variants in the gene associated with Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Turnaround Time

3 weeks

CPT Code(s)

81405

Cost

$1,000

Genes

Clinical Information

The short chain acyl CoA dehydrogenase 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. This is 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.

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

Sequencing of the ACADS gene is expected to detect mutations in 99% or more patients with a biochemical diagnosis of SCAD deficiency.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

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 the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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