Sequencing services sample requirements

Sample types and requirements: 

1. Blood (minimum 1ml) in an EDTA (lavender top) tube
2. Saliva (collected with an Oragene DNA OG-500/OGD-500 , OG-575 & OGD-575 , OG-510/OGD-510 or ORAcollect•DNA OCD-100/OCR-100kit)
3. Extracted DNA* 

• 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:

• Saliva sample type available only for custom projects using sample kits specified by Blueprint Genetics.
• 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.
• Many liver cells are polyploid.
• 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.

How should samples be collected, labeled and stored before shipping?

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 sample tube must be labeled with the predetermined Sequencing Service project-specific barcode stickers that match with the batch order you have created for the sample. Samples without proper labeling will not be accepted.
• 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.
• Hemolyzed or clotted blood samples will not be accepted.
• We will request a new sample if the DNA quality or quantity does not meet our standards for analysis.
• 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 elutionbuffer used for DNA isolation.
• The sample tube must be labeled with the predetermined Sequencing Service project-specific barcode stickers that match with the batch order you have created for the sample. Samples without proper labeling will not be accepted.
• 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.
• DNA should be extracted or isolated in a 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 sample type available only for custom projects using sample kits specified by Blueprint Genetics.

Saliva samples should be collected in with an accepted specimen collection kit

• Oragene DNA OG-500 / OGD-500
• OG-575 / OGD-575
• OG-510 / OGD-510
• ORAcollect•DNA OCD-100 / OCR-100.

Please follow the manufacturer’s collection instructions carefully (DNA Genotek > Collection Instructions). Instructions are provided in Customer’s Guide and can be found on the manufacturer’s website in multiple languages. Samples collected improperly (e.g. sample is mainly mucus not saliva) will not be accepted.

The sample tube must be labeled with the predetermined Sequencing Service project-specific barcode stickers that match with the batch order you have created for the sample.  Samples without proper labeling will not be accepted.

We will request a new sample if the DNA quality or quantity does not meet our standards for analysis.

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