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Denver Genetic Laboratories
 

Glutaric Acidemia Type 2* Combined Enzyme Assays (ETF/ETF:QO), Fibroblasts

Clinical Test Information - UCD Biochemical Genetics Laboratory


 

* A.k.a. GA 2, Glutaric acidemia type II, GA II, Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), electron-transfer flavoprotein/electron-transfer flavoprotein:ubiquinone oxidoreductase (ETF/ETF:QO) deficiency.

CPT Code:

82657

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:

Quantitative and qualitative analysis compared to control.

Use:

Diagnosis of glutaric acidemia type 2 (GA 2), Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).

Methodology:

CO2 release assay.

Additional Information:

Please note that mutation analysis for GA 2 is performed by the UCD DNA Diagnostic Laboratory.