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

DUKE BIOCHEMICAL GENETICS LABSERVICE SCHEDULE & GUIDELINES FOR SAMPLE SHIPMENTBiochemical Genetics LaboratoryMass Spectrometry FacilityDuke University Hospital801 Capitola Drive, Suite 6Durham, NC 27713Phone: (919) 549-0445 Fax: (919) 549-0709http://medgenetics.pediatrics.duke.edu/labservicesACYLCARNITINE PROFILE:URINE)PLASMA, SERUM, PKU CARD, WHOLE BLOOD, (NOAmount of sample:Special Note:Shipping:Plasma (heparinized or EDTA) or serum: 0.5 mL(absolute minimum: 0.25 mL)Whole blood: 1.0 mL (absolute minimum: 0.5 mL)PKU card: fill at least 3 spots, allow to air dry for 4 hours.PLASMA OR PKU CARD IS THE SAMPLE OF PREFERENCE.Plasma or serum: ship frozen on dry ice.Whole blood: ship on wet ice (not frozen).PKU card - mail in envelope.CPT Code: 82017Method:Tandem Mass SpectrometryAMINO ACIDS:PLASMA OR SERUM /CSFAmount of sample:Shipping:Heparinized plasma (preferred) or serum: 0.5 mL (absoluteminimum 0.25 mL).Whole blood (heparinized – green top preferred) 3 mL(absolute minimum: 1mL)CSF: 500 µL (absolute minimum 0.25 mL)Plasma, serum or CSF: ship frozen on dry ice.Whole blood: ship on wet ice (not frozen).CPT Codes: 82139Method:Hitachi Amino Acid AnalyzerAMINO ACIDS:URINEAmount of sample: 5 mL; no preservatives. (Absolute minimum – 1 mL).Shipping:Freeze, ship on dry ice.CPT Codes: 82139, 82570Method:Hitachi Amino Acid AnalyzerVersion: 09/22/2010 Page 1 of 5

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

DUKE BIOCHEMICAL GENETICS LABSCAD DNA TESTING FOR GENE VARIANTS IN EXONS 5 & 6Amount of sample:Shipping:Whole blood – 1 - 3 mL (purple top)Whole blood – ship preferably on 4 C ice packs(Shipment at room temp. is OK in winter months).CPT Codes: 83890, 83898, 83904, 83912Method:PCR of exons 5 and 6, followed by DNA SequencingSULFOCYSTEINE:URINEAmount of sample: 1.0 mL; no preservatives. (Absolute minimum - 0.5 mL).Shipping:Freeze, ship on dry iceCPT Codes: 82543, 82570Method:Tandem Mass SpectrometryURINE HEX 4 :URINEAmount of sample: 1.0 mL; no preservatives. (Absolute minimum - 0.25 mL).Shipping:Freeze, ship on dry iceCPT Codes: 82570, 83789Method:Liquid chromatography - Tandem Mass Spectrometry(LC-MS/MS)Version: 09/22/2010 Page 4 of 5

ADDITIONAL LABORATORY INFORMATION• Results are available for a VERBAL report (preliminary FAX on request) within theturn-around time specified for EACH test. Hard copies are mailed after physicianinterpretation of all tests requested on a patient. ONLY DEFINITE DIAGNOSESARE REPORTED PROMPTLY BY TELEPHONE.• Please label all samples with name, date, and time using INDELIBLE INK, andplace samples in a plastic bag (gummed labels fall off of samples shipped on dryice).• Ship samples only MONDAY – THURSDAY. No Saturday deliveries please.• Use only guaranteed OVERNIGHT COURIERS (U.S. Postal Express may take 3-4days to arrive, samples will be ruined).• When sending a 24-hour urine sample, please pool and record total volume; send20ml only.• CERTIFICATION NUMBERS:College of American Pathologist (CAP) – 43190-36Joint Commission (JCAHO) – 006360390Health Care Financing Admin. (HCFA or CLIA) – 34D0674833• FEDERAL TAX ID NUMBER: 56-2070036 (Duke University Health System)SHIPPING AND MAILING ADDRESS:Biochemical Genetics LaboratoryMass Spectrometry FacilityDuke University Hospital801 Capitola Drive, Suite 6Durham, NC 27713Phone: (919) 549-0445Fax: (919) 549-0709Please visit our Web Site at: http://medgenetics.pediatrics.duke.edu/labservicesVersion: 09/22/2010 Page 5 of 5