Specimen Requirements for DNA Analysis
The Molecular Genetics Laboratory at Cincinnati Children's Hospital Medical Center is dedicated to providing accurate and timely molecular tests, using the specimen requirements below.
All samples must be clearly labeled with the patient's name and birth date and should be initialed by the phlebotomist to attest to the patient's identity on the label. The samples should be wrapped, cushioned against breakage and sealed in a plastic bag before placement in the shipping container. Please see our Shipping Instructions for additional information.
Blood Samples | Cytobrush Samples | Autopsy Specimens l Prenatal Samples
Blood Samples
Blood samples should be collected in EDTA (lavender topped) tubes. 5cc on adult or 3cc on child is required for analysis. Blood collected on Friday may be stored in refrigerator until Monday for overnight shipment.
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Cytobrush Samples
Cytobrush samples, collected from buccal cells are required for patients undergoing DNA analysis following bone marrow transplantation or for patients with severe cytopenia. Samples should be collected using our collection kits, which we will mail to you upon request. Please forward your request for kits and your mailing address to: moleculargenetics@cchmc.org.
| Download Buccal Cell Collection Guidelines |
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 Download Buccal Cell Collection Guidelines (52k) in portable document format (.pdf).
 You must have Adobe Acrobat" Reader installed on your computer to read this file. You can download Adobe Acrobat" Reader at Adobe's Web site by selecting the version appropriate for your type of computer.
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Autopsy Specimens
Analysis of autopsy specimens is sometimes recommended prior to carrier testing or prenatal diagnosis for certain disorders. Our genetic counselor will help you to decide when such testing is appropriate and will assist you in securing specimens.
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Prenatal Samples
We require that the referring center consult with our genetic counselor regarding any prenatal case before submission of sample. Analysis of an affected relative or of the carrier parents (in the case of autosomal recessive disorders) may be required in order to undertake fetal diagnosis. All prenatal samples must be accompanied by 5 cc of maternal blood (in EDTA lavender topped tube) for identification of maternal cell contamination. An additional charge will apply for this testing.
Amniotic Fluid: Please send 20 cc of uncultured fluid for cell culturing and DNA analysis or two T-25 flasks with 100% confluency for analysis. (An additional charge will apply for cell culturing). Completely fill flasks with culture media prior to shipping. Please maintain backup cultures until DNA analysis is completed.
Chorionic villus samples: Please send 10 mg of cleaned chorionic villi in sterile culture media for cell culturing and DNA analysis or two T-25 flasks at 100% confluency for analysis. (An additional charge will apply for cell culturing). Completely fill flasks with culture media prior to shipping. Please maintain backup cultures until DNA analysis is completed.
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For more information about Molecular Genetics Laboratory Services, please call 513-636-4474 or send us an email (moleculargenetics@cchmc.org).
