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Denver Genetic Laboratories
 

Leukocyte Combined Enzyme Activity and Mutation Analysis for VLCADD

Clinical Test Information - UCD Biochemical Genetics Laboratory


 

CPT Codes:

82657, 81406

Availability:

Send specimen(s) overnight express to be received Monday-Friday, excluding laboratory holidays.

  • Proband Only. No Parents

Turnaround Time:

Two weeks.

Minimum Volume:

6.0 ml pediatric minimum, or 10.0 ml adult minimum, of whole blood is required. Collect blood in purple cap (EDTA) tubes. Please be aware that vacuum blood collection tubes rarely collect the entire volume indicated on the tube, and additional tubes may be required to achieve the actual minimum volume required.

Specimen Handling:

Send tubes in a styrofoam box on WET (water) ice -- not frozen. Send specimens on the day they are collected. Prometheus boxes are not acceptable shipping containers, as they do not provide sufficient refrigeration. Send overnight express to be received Monday-Friday, excluding laboratory holidays. Please include any relevant information about the patient.

Interpretive Reference Range:

Provided with report.

Use:

Diagnosis of very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD).

Methodology:

Fluorometric enzyme assay with electron transfer flavoprotein (ETF) and DNA sequencing.

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