Primary Carnitine Deficiency, systemic : SLC22A5 Sequencing

Test Information

SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.

Turnaround Time

2 weeks

CPT Code(s)

81405

Cost

$1,000.00

Genes

Clinical Information

Primary carnitine deficiency is an autosomal recessive disorder resulting from impaired carnitine transport and primarily affects skeletal and cardiac muscle. Muscle weakness and hypertrophic cardiomyopathy are common manifestations. Patients may also present with an acute illness or have recurring episodes of illness which can include hypoglycemia and lethargy as well as hepatic and renal dysfunction.

Individuals with mutations in SLC22A5 will usually have biochemical findings of low plasma carnitine and elevated urine carnitine. Systemic primary carnitine deficiency is effectively treated with dietary supplementation of carnitine.

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

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, Newborn Screening Follow-Up, Sanger Sequencing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

In The News