Carnitine Palmitoyltransferase IA Deficiency : CPT1A Sequencing

Test Information

CPT1A sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase IA Deficiency.

Turnaround Time

2 weeks

CPT Code(s)

81406

Cost

$1,500

Genes

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

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, Newborn Screening Follow-Up, Sanger Sequencing
Meet Jeremiah

Meet Jeremiah

Play peek-a-boo with 9 month-old Jeremiah Licorish of Florence, and you'll be rewarded with a huge grin that lights up both his and his mother's faces. But this family has been through the unthinkable over the past few months, with very few reasons to smile. At first things were going well. Jeremiah was a happy, healthy newborn, doted on by his mother, Aneesa, and his three big brothers. But when Jeremiah was around 5 months old, Aneesa noticed changes in her youngest son's development...

In The News