General Specimen Requirements and Shipping

  • All samples should be shipped via overnight delivery at room temperature, to the address provided above.
  • We do not accept weekend or holiday deliveries. If a blood sample is drawn on a Friday, please refrigerate the specimen over the weekend and ship on the following Monday (overnight at room temperature).
  • Please label each specimen with at least two patient identifiers, such as patient’s name and date of birth, in addition to labelling with the date of sample collection. Samples which are not labelled with two identifiers will not be processed due to CAP requirements. 
  • Please send a completed requisition form with each specimen. Specimen processing may be delayed if incorrect or incomplete paperwork is received. Each test page on our website has a link to the appropriate test requisition form to use for that particular test.

Postnatal Specimen Requirements

We are validated to accept a number of different specimen types. Please note that accepted specimen types vary depending on the methodology used for a given test. Please refer to the specific test page for the test you would like to order to determine what specimen types are accepted. 

  • Blood: For our molecular genetics tests we require 3-10cc blood in an EDTA (purple top) tube. For thyroid hormone studies, 3-10cc of blood in a red top tube is required. For our cytogenomic SNP array, please send 2-5cc of blood in an EDTA tube and 2-5ml of blood in a sodium heparin tube. Please note that for hereditary cancer testing for patients with hematological malignancies, blood samples are not accepted - 2 X T-25 flasks of cultured skin fibroblasts is recommended instead. Please contact the laboratory for more information. 
  • Extracted DNA: Specimen requirements for DNA samples vary by test, please contact us for more details.
  • Saliva: We are validated to use the OraGene Saliva Collection Kits For Diagnostics. For tests that employ Next Generation Sequencing or array-CGH methods, please send two collection kits per patient. For other tests, one collection kit is typically sufficient.
  • Cultured cells: Two T-25 flasks of cultured cells. Please place label with patient information on the side of each flask, not on the top or bottom.
  • Buccal Swabs: We are able to accept buccal swabs for a limited number of tests, including targeted mutation analysis and sequence analysis for genes performed using Sanger sequencing methodologies. For targeted mutation analysis please send one buccal swab collection kit. For full gene sequencing, please send 4 kits. 

Prenatal Specimen Requirements

Please contact the laboratory prior to sending any prenatal specimens.

  • Amniotic Fluid: 5-7cc amniotic fluid. For targeted mutation analysis, testing can typically be performed on DNA isolated directly from amniotic fluid, however sometimes we cannot get enough DNA from the direct sample and in these situations a back-up culture will be requested (2 T25 flasks).  For amniotic fluid samples we will use all the sample for DNA isolation, and will not set up a back up culture as standard.  Thus, we recommend that clients start a back-up culture at their facility or elsewhere.  If your institution is unable to set up a back-up culture and you would like us to set up a culture here instead, please contact us prior to sending the sample to discuss specimen requirements. 
  • Chronic Villi: 25-30 mg chorionic villi. For targeted mutation analysis, testing can typically be performed on DNA isolated directly from chorionic villi, however sometimes we cannot get enough DNA from the direct sample and in these situations a back-up culture will be requested (2 T25 flasks).  For direct chorionic villi samples we will use all the sample for DNA isolation, and will not set up a back up culture as standard.  Thus, we recommend that clients start a back-up culture at their facility or elsewhere.  If your institution is unable to set up a back-up culture and you would like us to set up a culture here instead, please contact us prior to sending the sample to discuss specimen requirements. 
  • Cultured Cells: 2 T25 flasks of cultured cells. Please place label with patient information on the side of each flask, not on the top or bottom.
  • Maternal blood sample for MCC studies: please send 3-10cc of mother’s blood in an EDTA/purple top tube to rule out maternal cell contamination (MCC). There is no additional charge for MCC studies for prenatal cases. Test results may be delayed if a maternal blood sample is not received.