Glutaric Acidemia Type II* Combined Immunoassays and Enzyme Assays
ETF/ETF:QO (Fibroblasts)
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* GA II, Multiple Acyl-CoA Dehydrogenase Deficiency (MADD),
electron-transfer flavoprotein/electron-transfer flavoprotein:ubiquinone oxidoreductase
(ETF/ETF:QO) deficiency.
Price: $1,500.00
CPT Codes: 83516 (immunoassays) and 82657 (enzyme assays).
Availability: Mon. - Fri., 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 II (GA II), Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).
Methodology: Western blot (immunoassays), spectrophotometric ETF activity assay and fluorometric ETF:QO activity assay.
Printer-friendly instructions & contact information for
GA I & GA II (MADD) testing in fibroblasts:
Portable Document Format (PDF) (requires Adobe® Acrobat Reader)
Please note: Clinical mutation analysis for GA I and GA II (MADD) is performed by
the UCD DNA Diagnostic Laboratory.
A notice regarding the January 2008 price increase for these tests:
Portable Document Format (PDF) (requires Adobe® Acrobat Reader)
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Page updated 11/9/2009
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