Skip to main content
Sign In

Denver Genetic Laboratories
 

Specimen Collection & Handling


Please choose the appropriate laboratory division for your needs:

Telephone: 720-777-0500
Fax: 720-777-7877
Email: Michael.Woontner@ChildrensColorado.org

Address for Shipping, Mailing, and Couriers:

Children's Hospital Colorado
Clinical Lab- Biochemical Genetics
13123 East 16th Avenue B120, Rm. B0200 
Aurora, CO 80045

 

All specimens must be received with an appropriate test requisition form that has been fully completed to include the following information:

  • Name of patient.
  • Date of birth of patient.
  • Collection date and time for specimen(s).
  • Name of physician ordering the test.
  • Name, address and contact phone number of facility requesting the test.
  • Your facility accession number for each specimen (for your reference).
  • Test(s) requested—one form may be used for requesting multiple tests.

 

I. Quantitative Tests (no patient preparation required)

  • Plasma or serum acylcarnitine profile:

   0.2 mL heparinized plasma collected in green-topped tubes (or serum),
   frozen and sent on dry ice. MUST INCLUDE PATIENT AGE.

  • 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.

All 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.


II. 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.

All 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.


III. Urine Trimethlaminuria (TMAu) Testing: Trimethylamine (TMA) and Trimethlamine-n-oxide (TMAO)


IV. Leukocyte Enzyme Assay (with or without mutation analysis) for VLCADD

Please choose the appropriate printer-friendly (PDF) document:


V. Fibroblast GA1, GA2 (MADD), and Pyruvate Dehydrogenase Deficiency (PCDC) Assays

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 requisition 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 GA1 & GA2 (MADD) testing:

Dr. Michael Woontner
Phone: 720-777-0506
Email: Michael.Woontner@ChildrensColorado.org

Primary contact for fibroblast Pyruvate dehydrogenase deficiency (PCDC) testing:

Marisa Friederich, PhD
Phone: 720-777-0528
Email: Marisa.Friederich@ChildrensColorado.org​​​​​​​​​​​


VI. Mitochondrial Respiratory Chain Enzyme Assays

Specimen requirements:

  • Muscle tissue: Please see the detailed instructions below. Minimum 60 mg required.
  • Liver tissue: Please see the detailed instructions below. Minimum 20 mg required. Samples of <60 mg will require microassay (please note that the microassay is less robust than the regular assay).

MUSCLE

Muscle biopsies must be obtained without the use of electrocautery and must be completely processed within 5 to 10 minutes of being excised. Muscle biopsies should be preferably about 120 mg in size. They must be frozen immediately in liquid nitrogen or on dry ice. They cannot be placed in any preservative including OCT. They must be stored in a microvial at -70° C until shipment to the laboratory on dry ice.

LIVER

Liver samples can be obtained as a wedge biopsy or as a needle biopsy. It is important to ensure that sufficient liver tissue is obtained.  If using a needle biopsy, obtain two (2) needle biopsies 14 Gauche Bard monopty instrument 2 cm length.  Postmortem samples have to be obtained within 6 hours of death, but preferably within 2 hours of death as interpretation will become more difficult with time.

Place the liver biopsy in either Parafilm or aluminum foil, and then place in a 2 ml cryotube, then close the screw cap tightly.

Freeze immediately in liquid nitrogen or on dry ice, and maintain in frozen condition. If possible, weigh liver biopsy before placing in the cryotube.  If the specimen was not weighed before it was frozen, DO NOT attempt to weigh a frozen sample as the samples degrade very easily.  Instead, ship the sample to the RC Core Lab without a weight.  Lab personnel will weigh the sample.

Keep sample in -70° C freezer. Samples will not be stable at -20° C. Samples that have thawed even for a short period are not acceptable.  Weighing the sample will cause thawing.  DO NOT ATTEMPT TO WEIGH A FROZEN SAMPLE.

ALL MITOCHONDRIAL ASSAY SPECIMENS

All tissue specimens should be frozen immediately in liquid nitrogen, or on dry ice, and stored at -70° C. Specimens should be shipped frozen on dry ice.

Please also enclose a completed requisition form for mitochondrial respiratory chain enzyme assays (please make sure that you enclose the appropriate requisition form, and that both pages of the requisition form are completed).

Primary contact for mitochondrial enzyme assay:

Marisa Friederich, PhD
Phone: 720-777-0528
Email: Marisa.Friederich@ChildrensColorado.org​​​​​​​​​​​​​​

Instructions for Collecting, Handling and Shipping Specimens

Specimen Identification: Please put full name and date of birth on each specimen as it is drawn. Unlabeled specimens will not be processed.

Quick Facts (for most samples):


Send purple top blood tube at room temp, with a completed Order Form.
5 ml (adult), 2–5 ml (pediatric), minimum of 1 ml (newborns)
Ship specimens to this address:

     Children's Hospital Colorado
     Clinical Lab- Molecular Genetics
     13123 East 16th Avenue
, Rm. B0200
     Aurora, CO 80045

All specimens must be accompanied by our Order Form that has been fully completed. Please use a separate order form for each person.

Shipment of Specimens:  Specimens should be received in the CHCO Molecular Laboratory within 72 hours of collection if possible – maximum 5 days. Our laboratory is closed on Saturdays and Sundays, and on certain holidays as indicated on the About Us page.  Store at ambient room temperature or refrigerate until you send; do not freeze.  Ideally, specimens should be collected and shipped early in the week to avoid delivery on a weekend.  Local couriers may be used to deliver specimens within the Denver metropolitan area.

Ship specimens to this address:

Children's Hospital Colorado
Clinical Lab- Molecular Genetics
13123 East 16th Avenue
, Rm. B0200
Aurora, CO 80045

Peripheral Whole Blood:  5 ml (adult), 2–5 ml (pediatric), minimum of 1 ml (newborns).
We prefer EDTA (lavender/purple top) vacutainer tubes, but we can also accept blue, yellow or green top tubes if necessary.  We cannot accept red top tubes (clotted blood) for DNA testing.  Transfusions of whole blood prior to peripheral blood collection may result in an inconclusive interpretation.

Extracted DNA:  We accept extracted DNA for any test; send approximately 10–20 µg.  From overseas,
we recommend sending extracted DNA.  Keep some DNA as a backup if possible, in case a sample is damaged in transit. From Canada, send either whole blood or DNA.

Cell Cultures – Fibroblasts and Other:  Send cultured cells at room temperature: Two T25 flasks, filled with media for shipment.  Please continue to maintain the cell culture as a backup until results are reported.

For help in planning prenatal diagnosis, see FAQ: Sample Strategies, Prenatal Diagnosis

Amniotic Fluid – Cell Culture:  Send cultured amniocytes at room temperature: Two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported.

Amniotic Fluid – Direct:  Please establish a cell culture before sending direct fluid; maintain the cell culture as a backup until results are reported.  If the direct sample size is too small, results will be reported on the cell culture.  For second trimester samples, send two (2) samples of direct amniotic fluid, 15–20 ml each, in sterile, securely capped plastic tubes.  For third trimester samples, send a total of 45–50 ml of direct fluid.  Transport promptly at room temperature.

CVS – Cell Culture:  Send cultured cells at room temperature: Two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported.

CVS – Direct:  Please establish a cell culture before sending direct tissue; maintain the cell culture as a backup until results are reported.  If the direct sample size is too small, results will be reported on the cell culture. Direct CVS specimen:  At least 10–15 mg of tissue in a sterile medium in a sterile, securely capped plastic container or centrifuge tube.  Clean the tissue and transport promptly at room temperature.

Maternal Cell Contamination Study (MCC):  We test for maternal cell contamination with all prenatal testing.  If a fetal sample is contaminated with maternal cells, interpretation will be inconclusive.  Please provide a maternal blood sample, 2–3 ml, either before or with the fetal sample.  Send a separate Order Form for the maternal sample.  If a maternal DNA sample is already stored in our laboratory, please contact us to ask if we need an additional specimen.

Saliva Specimens:  Contact us to confirm if a saliva sample is suitable for the test you wish to order. We bill $25 if we send you a saliva kit.

NBS, Newborn Screening Blood Spots:  We do have a protocol to extract DNA from blood spots, but the amount of DNA may not be enough for the test you wish to order. Contact us before submitting.

Buccal (Cheek) Swabs:  We do not normally accept this sample.

Laboratory Approval for Other Sample Types:  Please obtain prior approval of a Laboratory Director for specimen volumes less than the minimum, specimens collected out of the preferred time frames, or analysis of other specimen types.

Paperwork:  A completed Order Form, including signed consent form, must accompany specimens. Check our website for the latest version of the Order Form.  Send a separate Order Form for each person: Request Form + Test Checklist + Signed Consent Form + Client Information Fax Form. Copies of medical records confirming diagnosis in affected individuals and other relevant clinical notes, such as reports of genetic testing already performed, should accompany specimens.  Please avoid sending personal health information (PHI) by email except in securely encrypted messages.  Fax or mail are better for HIPAA privacy compliance.

Missing Paperwork Policy:  For Order Forms with missing or incomplete answers (e.g., absent or unsigned consent forms or inadequate billing information), we will extract DNA and wait for paperwork before running the test. Cancellation policy (e.g., due to problems with paperwork): $75 fee.

Who Are Our Clients?  We communicate directly with referring healthcare providers – physicians, genetic counselors, geneticists, hospitals, send-out labs, etc. – who send samples to us and receive our reports.  We do not communicate results directly to patients.  We do not see patients here or draw blood in our laboratory.  We can assist with referral information for genetic counseling and other genetic services.

More About Who We Are:  We are a non-profit diagnostic laboratory with academic research interests, now located at Children's Hospital Colorado (formerly affiliated with the University of Colorado School of Medicine). We are certified by CAP and CLIA. We are not a commercial DTC (Direct-to-Consumer) company.

Billing: See Payment & Billing for details.

To Contact Us:

Central Number for the DNA Diagnostic Laboratory: Tel: 720-777-0500; Fax: 720-777-7886

Credit Card Payments: Ms. Amber Brand, Tel: 720-777-2723​

​​​