* A.k.a. glutaryl-CoA dehydrogenase, GCDH, GCD.

CPT Code:

82658

Availability:

Monday - Friday, 0800 - 1700.

Turnaround Time:

2 - 3 months (depending on growth rate of cultured cells).

Minimum Volume:

Two T-25 flasks of confluent fibroblasts, with plug-seal caps, completely
filled with media. Fibroblasts must be mycoplasma-free.

     NOTE: An additional fee of $460 will be charged for skin specimens that have not
     been cultured into confluent fibroblasts before shipment.

Specimen Handling:

Send flasks in a Styrofoam box at room temperature. Please include passage number (if known) and any relevant information about the patient.

Interpretive Reference Range:

6.5 – 17.4 nanomoles CO₂/hour/mg protein (subject to interpretation).

Use:

Diagnosis of glutaric acidemia type 1 (a.k.a. GA 1, glutaric acidemia type I, GA I).

Methodology:

CO₂ release assay.

Additional Information:

Please note that mutation analysis for GA 1 is performed by the UCD DNA Diagnostic Laboratory.

• Printer friendly instructions and contact information regarding testing in fibroblasts.