DUKE BIOCHEMICAL GENETICS LAB Version: 09/22/2010 Page 1 ...

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DUKE BIOCHEMICAL GENETICS LABCARNITINE LEVELS (FREE & TOTAL):PLASMA OR SERUMAmount of sample: Plasma (heparinized or EDTA) or serum: 0.5 mL (absoluteminimum: 0.25 mL)Shipping:Freeze plasma or serum, then ship on dry ice.CPT Codes: 82379Method:Tandem Mass SpectrometryCARNITINE LEVELS (FREE & TOTAL):URINEAmount of sample: 5 mL; no preservatives. (Absolute minimum - 0.5 mL).Shipping:Freeze sample, then ship on dry ice.CPT Code: 82379, 82570Method:Tandem Mass SpectrometryCOMBINATION * CARNITINE LEVEL / ACYLCARNITINE PROFILE: PLASMA/SERUMONLYAmount of sample: Plasma (heparinized or EDTA) or serum: 0.75 mL (absoluteminimum: 0.5 mL)Shipping:Freeze plasma or serum, then ship on dry ice.CPT Codes: 82017, 82379Method:Tandem Mass SpectrometryCREATINE/GUANIDINOACETATE ASSAY: URINE, PLASMA OR SERUMAmount of sample: Urine: 1.0 mL; no preservatives. (Absolute minimum – 0.25mL)Plasma (heparinized or EDTA) or serum: 0.5 mL.(Absolute minimum: 0.25 mL).Shipping:Freeze, ship on dry ice.CPT Codes: Urine: 82544, 82540, 82570Plasma: 82544, 82540, 82565Method:Liquid Chromatography – Tandem Mass Spectrometry(LC-MS/MS)Version: 09/22/2010 Page 2 of 5
DUKE BIOCHEMICAL GENETICS LABIN VITRO TEST FOR FATTY ACID OXIDATION DISORDERS:FIBROBLASTSAmount of sample: 2 x T-25 cm 2 flasks of cultured fibroblasts (at or nearconfluency)Shipping:Fill flasks completely with media and ship at roomtemperature (NO ice or dry ice necessary)CPT Codes: 82017, 88233, 88240Method:Tandem Mass SpectrometryLCHAD DNA (1528G>C MUTATION ONLY)Amount of sample: Whole Blood: 1 mL – 3 mL. (Purple top)Postmortem: a) Frozen fresh liver – 0.5 gram wet weightb) Whole blood – 1 mL.Shipping:Frozen fresh liver – ship on dry iceWhole blood – ship preferably on 4 °C ice packs(Shipment at room temp. is OK in winter months).CPT Codes: 82017, 83890, 83898, 83892, 83894, 83912Method:PCR + Restriction Endonuclease + SDS-PAGEMCAD DNA (985A>G MUTATION ONLY)Amount of sample: Whole Blood: 1 mL – 3 mL. (Purple top)Postmortem: a) Frozen fresh liver – 0.5 gram wet weightb) Whole blood – 1 mL.Shipping:Frozen fresh liver – ship on dry iceWhole blood – ship preferably on 4 °C ice packs(Shipment at room temp. is OK in winter months).CPT Codes: 82017, 83890, 83898, 83892, 83894, 83912Method:PCR + Restriction Endonuclease + SDS-PAGEORGANIC ACIDS:URINEAmount of sample: 5 mL; no preservatives. (Absolute minimum – 0.5 mL).Shipping:Freeze, ship on dry ice.CPT Codes: 83919, 82570Method:Capillary Column Gas Chromatography /Mass SpectrometryVersion: 09/22/2010 Page 3 of 5
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Page 5: ADDITIONAL LABORATORY INFORMATION

DUKE BIOCHEMICAL GENETICS LAB Version: 09/22/2010 Page 1 ...

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