SERVICE SCHEDULE, FEES & GUIDELINES FOR SAMPLE SHIPMENT

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Lucas Rich
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1 SERVICE SCHEDULE, FEES & GUIDELINES FOR SAMPLE SHIPMENT ACYLCARNITINE PROFILE: PLASMA/SERUM, PKU CARD, WHOLE BLOOD Amount of sample: Plasma (heparinized is preferred, EDTA acceptable) 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. Special Note: PLASMA OR PKU CARD IS THE SAMPLE OF PREFERENCE. Plasma or serum: Ship frozen on dry ice. PKU card: Mail in envelope at ambient temperature. CPT Code: Test Schedule*: Monday, Wednesday, and Friday AMINO ACIDS: PLASMA OR SERUM AND CSF Amount of sample: Heparinized (green top) plasma (preferred) or serum (red top): 0.5 ml (Absolute minimum: 0.25 ml). Whole blood: 1 to 3 ml (absolute minimum: 0.5 ml) CSF: 500 µl (absolute minimum: 0.25 ml) Plasma, serum or CSF: Ship frozen on dry ice. Whole blood: Ship at 4 o C on wet ice or ice pack (not frozen). CPT Code: Hitachi Amino Acid Analyzer AMINO ACIDS: Amount of sample: 5 ml; no preservatives (absolute minimum: 1 ml). CPT Codes: 82139, Hitachi Amino Acid Analyzer CARNITINE LEVELS (FREE & TOTAL): PLASMA/SERUM Amount of sample: Plasma (heparinized or EDTA) or serum: 0.5 ml (Absolute minimum: 0.25 ml) Plasma or serum: Ship frozen on dry ice. CPT Codes: Test Schedule*: Tuesday, Thursday, and Friday CARNITINE LEVELS (FREE & TOTAL): Amount of sample: 5 ml; no preservatives (absolute minimum: 0.5 ml). Freeze sample, then ship on dry ice. CPT Code: 82379, Version: 01/15/16 Page 1 of 5

2 COMBINATION * CARNITINE LEVEL / ACYLCARNITINE PROFILE: PLASMA/SERUM ONLY Amount of sample: Plasma (heparinized preferred) or serum: 0.75 ml (Absolute minimum: 0.5 ml) Shipping Plasma or serum: Ship frozen on dry ice. CPT Codes: 82017, Test Schedule*: See above for acylcarnitine and plasma carnitine tests. CREATINE/GUANIDINOACETATE ASSAY:, PLASMA/SERUM Amount of sample: Urine: 1.0 ml; no preservatives (Absolute minimum: 0.25 ml) Plasma (heparinized or EDTA) or serum: 0.5 ml. (Absolute minimum: 0.25 ml). CPT Codes: Urine: 82542, 82540, Plasma: 82542, 82540, Liquid Chromatography (LC-MS/MS) IN VITRO TEST FOR FATTY ACID OXIDATION DISORDERS: FIBROBLASTS Amount of sample: 2 x T-25 cm 2 flasks cultured fibroblasts (at /near confluency) Fill flasks completely with media and ship at room temperature (NO ice or dry ice necessary) CPT Codes: 82017, 88233, Test Schedule*: As needed METHYLMALONIC ACID: PLASMA OR SERUM Amount of sample: Plasma (heparinized or EDTA) or serum: 0.5 ml (minimum 0.2 ml) Ship frozen on dry ice CPT Codes: ORGANIC ACIDS: Amount of sample: 5 ml; no preservatives (absolute minimum: 0.5 ml). CPT Codes: 83919, Capillary Column Gas Chromatography - Mass Spectrometry Version: 01/15/16 Page 2 of 5

3 SULFOCYSTEINE: Amount of sample: 1.0 ml; no preservatives (absolute minimum: 0.25 ml). Freeze, ship on dry ice CPT Codes: 82131, HEX 4 : Amount of sample: 1.0 ml; no preservatives (absolute minimum: 0.25 ml). Freeze, ship on dry ice CPT Codes: 82542, Liquid chromatography - (LC-MS/MS) VITAMIN A AND E: SERUM ONLY Amount of sample: Serum (red top tube) only. 1.0 ml; (absolute minimum: 0.5 ml). Shipping/ Handling: Separate serum, protect from light and freeze as soon as possible and within 2 hours of collection. Store in an amber vial or a vial covered with aluminum foil. Ship frozen on dry ice CPT Codes: (vitamin E); (vitamin A) Quantitative High Performance Liquid chromatography (HPLC) with UV detection Version: 01/15/16 Page 3 of 5

4 ADDITIONAL LABORATORY INFORMATION *Test schedule is approximate and subject to change at any time. If results are required urgently, please contact the laboratory to discuss a possible faster turnaround time with the laboratory director. Preliminary results can be made available as a verbal report and FAX on request. Final reports are mailed after interpretation and review of all tests requested on a patient. ONLY DEFINITE DIAGNOSES ARE REPORTED PROMPTLY BY TELEPHONE AND FAX. Please provide telephone and fax number of referring physician. Please label all samples with name, date, and time using INDELIBLE INK, and place samples in a plastic bag (gummed labels fall off samples shipped on dry ice). Please ship samples only MONDAY THURSDAY. No Saturday deliveries. The lab is closed on Saturdays and Sundays, and on major holidays. Please use only guaranteed OVERNIGHT COURIERS (U.S. Postal Express may take 3-4 days to arrive, samples will be ruined). SHIPPING AND MAILING ADDRESS: Biochemical Genetics Laboratory Mass Spectrometry Facility Main Office Phone: (919) Duke University Hospital Fax: (919) Capitola Drive, Suite 6 Durham, NC CERTIFICATION NUMBERS: College of American Pathologist (CAP): Joint Commission (JCAHO): Health Care Financing Admin. (HCFA or CLIA): 34D FEDERAL TAX ID NUMBER: (Duke University Health System) LABORATORY DIRECTORS: Dwight Koeberl, MD, PhD, FACMG Medical Director Sarah Young, PhD, FACMG Co-Director Deeksha Bali, PhD, FACMG Co-Director David Millington, PhD Co-Director GENETIC COUNSELOR: Jennifer Goldstein, PhD, CGC, For information on testing performed by the Duke Glycogen Storage Disease laboratory: See the laboratory web-site or Call the main laboratory number, (919) , and ask for the GSD laboratory. Version: 01/15/16 Page 4 of 5

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METABOLITE TEST REQUISITION FORM SPECIMEN INFORMATION. Specimen Date: Time: ADDITIONAL INFORMATION

METABOLITE TEST REQUISITION FORM Baylor Institute of Metabolic Disease Last Name: First Name: DOB/Age: Gender: Male Female Medical Record #/Patient ID #: PATIENT INFORMATION - OR Place Patient Sticker