FAQs

Blood

• Blood should be collected in an EDTA tube (lavender top) designated for blood samples. 
• The tube should be labeled with the patient’s name, date of birth, and date of sample collection. 
• The blood tube should be labeled with “infectious” if the sample is known to contain infectious material, for example, Hepatitis B-, Hepatitis C-, or HI-virus. 
• The blood sample should be sent as soon as possible after it has been collected. The sample can be sent at room temperature. We recommend using transport tubes in accordance with IATA regulation 650. 
• If it is necessary to store the sample prior to shipping, it should be refrigerated immediately. If the sample will be stored for longer than 3 days, the sample should be kept frozen until shipped. 
• If the patient has received an allogeneic hematopoietic stem cell transplant, blood is not accepted. DNA extracted from non-hematopoietic tissue is acceptable. 
• Hemolyzed or clotted blood samples will not be accepted. 

Extracted DNA

• DNA should be extracted or isolated in a laboratory qualified with one or more of the following: CLIA certification, CAP accreditation, accreditation equivalency as determined by CMS, accreditations and certifications from established international organizations and/or government agencies. 
• The sample tube should be labeled with the patient’s name, date of birth, DNA concentration and volume. Ideally, a 1.5 mL snap-cap microcentrifuge tube sealed with parafilm should be used. 
• The sample can be sent at room temperature. We recommend using transport tubes in accordance with IATA regulation 650. 
• DNA samples should be sent in TE buffer or equivalent, or in any standard elution buffer used for DNA isolation. 
• DNA quality and quantity will be evaluated upon arrival at Blueprint Genetics. We will request a new sample if the DNA quality or quantity does not meet our standards for analysis. 

Saliva

• Saliva samples must be collected in the tube provided in our Saliva Sample Collection kit. 
• The sample tube must be labeled with the patient’s name, date of birth, and date of sample collection. 
• Instructions are provided in the kit and can be found on the manufacturer’s website in multiple languages. Please follow the manufacturer’s collection instructions carefully (DNA Genotek > Collection Instructions). 
• The sample can be stored and sent at room temperature. 
• Samples collected improperly (eg, sample is mainly mucus not saliva) or without proper labeling will not be accepted.

No, one sample is typically sufficient for multiple tests. However, if the two orders are placed at different times, we will need written consent from the ordering clinician to be able to perform analysis on an earlier sample – this can be provided in the test requisition form or via email to our Support team. If an additional sample is required, our client services team will contact you directly.

If your patient has received any blood product containing white blood cells (leukocytes), wait 2 weeks from the time of transfusion before collecting a sample.

Transfusions of packed red blood cells, plasma, or platelets are not expected to affect the analysis. Patients who have received these blood products can provide a sample at anytime.

Hematologic diseases may complicate the interpretation of next generation sequencing (NGS) results if the tested DNA sample is isolated from tissues containing leukocytes (blood, saliva, oral rinse, and buccal swabs) as DNA alterations may represent somatic variants within the patients affected tissue. Therefore, we recommend using DNA extracted from cultured skin fibroblasts (or another hematologically derived tissue) as source of germline DNA.

DNA extracted from cultured skin fibroblasts is the only post-transplantation source of DNA that is accepted if the patient had an allogeneic hematopoietic stem cell transplant.

Submitting a DNA sample from other sources in this situation increases the risk of contamination by donor DNA and false negative results. If available, a DNA sample taken prior to transplantation can be submitted.

You must indicate on the test requisition or in Nucleus that your patient has undergone an allogeneic hematopoietic stem cell transplant in addition to the source of the extracted DNA.

For our Whole Exome Family test, we require that samples on participating family members be sent at the same time as the index case’s sample.

If you are ordering our Expand to Exome service (expanding from a single gene or panel to Whole Exome Family test) and we already have a sample on the index patient, samples on participating family members should be sent at the time of the order. The Expand to Exome order will only be processed once we have received samples from all family members that are to be included in the analysis.

• Extracted DNA
• Blood samples
• Saliva samples