1.  Name of patient.
                  2.  Name of physician ordering the test.
                  3.  Date of birth of patient.
                  4.  Name, address and contact phone number of facility requesting the test.
                  5.  Collection date and time.
                  6.  Your facility accession number (for your reference).
                  7.  Tests requested.

I.  Screening Tests (no patient preparation required)

1.  Serum or plasma amino acids:
           0.3 mL serum (or heparinized plasma collected in green-topped tubes),
           ambient temperature.
2.  Urine amino acids:
           2.0 mL random urine, no preservative, ambient temperature.
3.  Urine organic acids:
           2.0 mL random urine, no preservative, ambient temperature.
4.  Urine mucopolysaccharides:
           10.0 mL random urine, no preservative, ambient temperature.

Samples should be sent in a well-constructed tube with a secure
lid to prevent leakage during transport.  Samples should not be sent in urine collection cups.

II.  Quantitative Tests (no patient preparation required)

1.  Serum or plasma amino acids:
           0.3 mL serum (or heparinized plasma collected in green-topped tubes),
           frozen and sent on dry ice.  Include patient age.
2.  Urine amino acids:
           2.0 mL random urine, frozen and sent on dry ice.  Include patient age.
3.  Urine and/or serum glutaric acid, 3-hydroxyglutaric acid, methylmalonic acid, orotic acid,
     hexanoylglycine, phenylpropionylglycine, N-acetylaspartic acid and succinylacetone
     (stable isotope dilution):
           0.5 mL serum (or heparinized plasma) and/or 2.0 mL urine, frozen.
4.  Tay-Sachs disease carrier status:
           0.3 mL serum (or heparinized plasma), sent with a serum from a control
           (non-Jewish male with no Tay-Sachs disease in family) if possible.
           Serum should be frozen immediately, packed in dry ice in a well-sealed
           styrofoam container and sent overnight delivery.  Mail samples early in
           the week to avoid weekend arrival.

Samples should be kept frozen until sent.  Samples should be sent in a well-constructed tube with
a secure lid to prevent leakage during transport.  Samples should not be sent in urine collection cups.

Please send two T-25 flasks containing confluent fibroblasts (with plug-seal caps, completely filled
with media) in a Styrofoam box at room temperature. Fibroblasts must be mycoplasma free and
grown only in fetal calf serum of U.S. origin.

A test requistion form must be filled out for each patient and sent with the specimens. Please also
include the passage number (if known) and any relevant information about the patient.

Primary contact for fibroblast specimens, tissue culture and GA I, GA II (MADD) &
VLCADD (VLCAD) testing:

Renata Collard
Phone: 303-724-3800
Email: renata.collard@uchsc.edu

Printer-friendly instructions & contact information for GA I, GA II (MADD) &
VLCADD (VLCAD) testing in fibroblasts:

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Page updated 1/2/2008