In This Section      
Print This Page

Sample Requirements

Samples require two (2) patient identifiers that match the sample with the accompanying paperwork. We are not able to test samples that are not properly identified.

Accepted identifiers include:

  • Patient name and date of birth (preferred)
  • Internal identifiers (such as specimen ID or medical record number)

Types of samples:


Blood Samples

  • Pediatric patient blood sample algorithm* (lavender top EDTA; minimum: 3ml) 
  • Adult Patient blood sample algorithm*  (lavender top EDTA; sample minimum: 6ml)
  • Cord Blood :lavender top EDTA; sample minimum 3 ml (maternal blood sample required)
  • For tests utilizing MLPA, we are only able to accept whole blood drawn in EDTA (purple or lavender top) tubes and Qiagen Puregene extracted DNA

Shipping

  • Refrigerate and ship with cold pack by overnight courier
  • Sample can be stored at room temperature if it will arrive in the lab less than 36 hours after blood draw
  • Blood samples are stable at 4 degrees Celsius for longer than a week

Note - if your patient has a low white cell count, the minimum 3 ml sample will likely not be sufficient to complete testing. Please see the appropriate algorithm for alternate minimum volumes and sample sources.


Prenatal Samples

CVS (direct villi)

  • 10 mg, cleaned
  • Ship frozen cell pellet on dry ice by overnight courier; can be shipped at room temperature if the sample will arrive in the lab less than 36 hours after procedure
  • We REQUIRE a sample of maternal blood to rule out maternal cell contamination (4-6 ml in EDTA).
  • A backup CVS culture should be maintained by the referring institution or lab until testing is complete.

Cultured Amniocytes or Chorionic Villi

  • 2 T25 flasks, 80-90% confluent at time of shipping
  • Ship in flask filled with culture media, room temperature by overnight courier
  • We REQUIRE a sample of maternal blood to rule out maternal cell contamination (4-6 ml in EDTA).
  • A backup prenatal cell culture should be maintained by the referring institution or lab until testing is complete.

Other Samples

Cultured Fibroblasts

  • 1 Confluent T75 flask
  • Ship flask filled with culture media, at room temperature by overnight courier

Frozen Tissue

  • 3-5 g; preferred tissues are muscle, lung and heart. We prefer not to test liver samples
  • Ship on dry ice by overnight courier
  • This sample type is not available for some tests. Please call the lab prior to shipping.

DNA

  • DNA sample requirements depend on the number of tests ordered and the size of the genes/panels selected. Most tests can be completed with 15-25 ug of high quality DNA.
  • The minimum concentration is 250 ng/ul. DNA samples should be suspended in Qiagen PureGene buffer, TE (10 mM/1 mM), or molecular biology grade water.
  • Ship frozen DNA on dry ice by overnight courier
  • We always prefer to have a direct sample, as all of our tests are optimized for our extraction methods

Unacceptable Samples

  • Fixed or preserved tissue
  • Paraffin blocks
  • Direct amniotic fluid
  • Cheek swab samples