Sample Requirements

The Joint Commission National Patient Safety Goals for 2008 require 2 patient identifiers that can be matched between the sample and the paperwork accompanying the sample. The patient name and date of birth are preferred, but an internal identifier like specimen ID or medical record number may also be used. We are not able to test samples that are not properly identified.

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.

*These documents address appropriate sample size and tube type as well as alternate samples and draw protocols for patients who are very young, very ill, or have low white cell counts.

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 (4-6ml 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

3-5g; 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 sequenced. The minimum concentration is 1ug/ul.

Ship frozen DNA on dry ice by overnight courier

We always prefer to have a direct sample not extracted DNA, as all of our tests are optimized for our extraction methods.

Qiagen Puregene extracted DNA is the only DNA that will be accepted for MLPA assays.

Unacceptable Samples include fixed or preserved tissue, parafin blocks, or direct cheek swab samples.