FAQs

Sample Requirements

Sample types and requirements:

  • Minimum 2 μg** in TE buffer or equivalent (please do not dilute in water)
  • Please ensure to provide at least 2 μg extracted DNA with a minimum concentration > 20 ng/μl (optimal concentration 20 – 150 ng/μl). The recommended volume is at least 60μl.
  • Stored in a DNase-free microcentrifuge tube (ideal: 1.5 mL snap-cap microcentrifuge tube).

Please note that:

  • Mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva, thus DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option in rare cases.
  • As many liver cells are polyploid, DNA extracted from liver tissue is only accepted for Familial Variant Testing of a known sequence variant (not accepted for exome, panel tests, or copy number changes).
  • We do not perform maternal cell contamination (MCC) studies for prenatal samples (chorionic villus samples, amniocytes, fibroblasts, amniotic fluid samples, etc.). We recommend MCC testing be performed locally for any prenatal testing sent to Blueprint Genetics.
  • We do not accept DNA extracted from formalin-fixed paraffin-embedded (FFPE) tissue.

*DNA must be extracted by a qualified laboratory with one or more of the following certifications/accreditations: CLIA certification, CAP accreditation, accreditation equivalency as determined by CMS, accreditations and certifications from established international organizations and/or government agencies.

**If DNA concentration is measured using a fluorescence-based DNA quantification method such as Qubit, 2 µg of DNA is sufficient. However, if the measurement is done using spectrophotometric methods, twice as much DNA is required as the concentration has likely been overestimated. If our DNA quality and quantity control demonstrate that the amount of DNA provided is less than what is required, we will request a new sample before beginning the analysis.

Last modified: 04 March 2016

Blood

  • Blood should be collected in an EDTA tube (lavender top) designated for blood samples. If collecting the sample in a blank tube, please indicate whether EDTA or another buffer has been used.
  • The tube should be labeled with two unique identifiers that can be matched to patient information in the order requisition, such as the patient’s name and date of birth. The sample tube should also include the date of sample collection. Please utilize a sticker for labeling the tube to prevent any information from being accidentally erased.
  • 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.
  • If the patient has received an allogenic hematopoietic stem cell transplant, blood is not accepted.
  • Hemolyzed or clotted blood samples will not be accepted.
  • 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 regulations 650. For more information, please see FAQ > Shipping.
  • 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.

Extracted DNA

  • DNA samples should be sent in TE buffer or equivalent, or in any standard elution buffer used for DNA isolation.
  • The sample tube should be labeled with two unique identifiers that can be matched to patient information in the order requisition, such as the patient’s name and date of birth. For prenatal testing, the identifiers should clearly distinguish the fetal samples from the maternal samples. Please utilize a sticker for labeling the tube to prevent any information from being accidentally erased.
  • Ideally, a 1.5 mL snap-cap microcentrifuge tube sealed with parafilm should be used.
  • DNA quality and quantity will be evaluated upon arrival at Blueprint Genetics. We will request a new sample sample if the DNA quality or quantity does not meet our standards for analysis.
  • DNA should be extracted or isolated in laboratory qualified with one or more of the following certifications/accreditations: CLIA certification, CAP accreditation, accreditation equivalency as determined by CMS, accreditations and certifications from established international organizations and/or government agencies.
  • The sample can be sent at room temperature. We recommend using transport tubes in accordance with IATA regulations 650. For more information, please see FAQ > Shipping.

Saliva

Saliva samples should be collected in the tube provided in the kit. Please follow the manufacturer’s collection instructions carefully (DNA Genotek > Collection Instructions). Instructions are provided in the kit and can be found on the manufacturer’s website in multiple languages. Samples collected improperly (eg, sample is mainly mucus not saliva) will not be accepted.

The sample tube must be labeled with two unique identifiers that can be matched to patient information in the order requisition, such as the patient’s name and date of birth. The sample tube should also include the date of sample collection. Please utilize a sticker for labeling the tube to prevent any information from being accidentally erased. Samples without proper labeling will not be accepted.

The sample can be stored and sent at room temperature. For more information, please see the FAQ > Shipping.

Last modified: 04 March 2016

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.

Last modified: 04 March 2016

TE buffer is often used. Other options are nuclease free water or elution buffer provided by standard DNA extraction kits.
 

Last modified: 04 March 2016

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.

Last modified: 30 January 2019

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.

Last modified: 30 January 2019

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.

Last modified: 30 January 2019

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.

Last modified: 13 April 2021

The sample requirements are the same as for our other tests, including:
  • Extracted DNA
  • Blood samples
  • Saliva samples
Please be aware that some mtDNA variants may not be detectable or present in blood, thus sample from post-mitotic tissue such as skeletal muscle may be a better option in rare instances.

Last modified: 24 February 2020