Laboratory testing

Laboratory Testing
Instructions for collecting and shipping samples

Metabolic profile
Phenylalanine

Laboratory request forms in PDF format are available for each laboratory test, so that you may download and print forms online. If you do not have the free Adobe Acrobat Reader Program, click on the Acrobat logo below to download this free software.

Click here to download and print a metabolic lab request form in PDF format.
Consult the table at the bottom of the page to determine the minimum volume of urine or serum required for each metabolic test.
Collect serum in a red top tube, centrifuge in closed tube, separate, and freeze the serum immediately.
Collect urine samples and freeze immediately. Do not add preservatives. Both random samples and 24 hour specimens are acceptable.
Pack frozen samples and request form in a styrofoam container with 4-5 pounds of dry ice. Ship by Priority Overnight mail to arrive Monday through Friday to:

        UMC Hospital and Clinics
        1400 Rock Quarry Road
        Columbia, MO 65212
        Attn: Metabolic Screening Lab, M749

If you have any questions, call 573-882-1858.

Minimum volume required for metabolic laboratory tests
Laboratory Test	Urine	Serum
Metabolic Profile*	13 ml	2.5 ml
Amino Acids, quantitative	1 ml	0.5 ml
Amino Acids, qualitative	6 ml	0.5 ml
Organic acids	6 ml	1 ml
Short chain fatty acids	5 ml	1 ml
Mucopolysaccharides, quantitative	2 ml	---------
Sugar chromatography	1 ml	---------

*Urine metabolic profile includes: qualitative amino acids and metabolic screen with quantitative amino acids if
indicated, organic acids, and quantitative mucopolysaccharides.

*Serum metabolic profile includes: qualitative amino acids with quantitative amino acids if indicated, short chain fatty
acids and organic acids if indicated.

Phenylalanine

Specimen requirements: 0.5 ml serum (spun down from 1 ml of whole blood)

    Please label tube with:
        - patient name
        - date of birth
        - date that blood was drawn

    A specimen request form should be sent along with the sample. Click here to download and print a
   phenylalanine lab request form in PDF format.

    Please include on the request form:
        - patient name
        - date of birth
        - date that the blood was drawn
        - diagnosis code (270.1 for PKU)
        - UMC hospital number (if possible)
Ship at room temperature by priority overnight mail within 48 hours of draw. The specimens must be shipped so they arrive during the normal work week, not over a weekend or holiday. Send specimen to:

        University of Missouri Health Care
        Attn: Metabolic Screening Lab, DCO58.00
        One Hospital Drive
        Columbia, MO 65212
        phone: 573-882-1858

If you have any questions, call Dawn Peck, MS, CGC at 573-884-5192.

Division of Medical Genetics
University of Missouri Health Care
One Hospital Drive
Columbia, Missouri 65212
phone: 573-882-6991
fax: 573-884-3543