(Please use the special two-page requisition form for mitochondrial respiratory chain enzyme assays.)

                  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.  Test(s) requested.

I.  Qualitative Screening Tests (no patient preparation required)

•   Serum or plasma amino acids:
             0.3 mL serum (or heparinized plasma collected in green-topped tubes),
             ambient temperature.
  
•   Urine amino acids:
             2.0 mL random urine, no preservative, ambient temperature.
  
•   Urine organic acids:
             2.0 mL random urine, no preservative, ambient temperature.
  
•   Urine mucopolysaccharides:
             10.0 mL random urine, no preservative, ambient temperature.
•   Urine or CSF Bratton-Marshall Test (succinylpurines):
             2.0 mL CSF or random urine (morning urine specimen preferred).
             Freeze urine or CSF immediately without preservative.

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)

•   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.
  
•   Cerebrospinal fluid (CSF) amino acids:
             Minimum volume 0.1 mL (at least 0.3 mL preferred),
             frozen and sent on dry ice.  Include patient age.
  
•   Urine amino acids:
             2.0 mL random urine, frozen and sent on dry ice.  Include patient age.
  
•   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.
  
•   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 on dry ice 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@ucdenver.edu

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

Portable Document Format (PDF) (requires Adobe^® Acrobat Reader)

IV.  Mitochondrial Respiratory Chain Enzyme Assays

•   Specimen requirements:
             Muscle tissue: Minimum 60 mg required.
             Liver tissue: Minimum 20 mg required. Samples of <60 mg will require microassay
             (please note that the microassay is less robust than the regular assay).
  
•   Tissue should be frozen immediately on dry ice, stored at -70^oC, and shipped frozen on dry ice.
•   A special two-page requisition form for mitochondrial respiratory chain enzyme assays must be enclosed
       (please complete both pages of the form):

Requisition form for mitochondrial respiratory chain enzyme assays (PDF) (requires Adobe^® Acrobat Reader)

Primary contact for mitochondrial enzyme assay:

Marisa Friederich
Phone: 303-724-3841
Email: marisa.friederich@ucdenver.edu

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Page updated 11/10/2009

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