Specimen types
Specimen types accepted:
- Whole blood
- Cord blood, collected at birth (but not prior to birth)—we recommend that you perform MCC analysis if you have concerns about maternal cell contamination for a given specimen
- Frozen or partially frozen blood, although deletion/duplication analysis is not guaranteed for these specimens; also note that these specimens will be thawed upon receipt
We are unable to accept:
- Hemolyzed or clotted blood
- Blood (or saliva) from patients who have had an allogeneic (non-self donor) bone marrow transplant.
- Blood (or saliva) from patients who had a blood transfusion less than two weeks prior to specimen collection
Hematologic malignancy:
Results may be affected for blood or saliva samples from patients with hematological malignancies that are actively circulating in the peripheral blood. In such cases, a specimen type not derived from blood or saliva is suggested, such as gDNA from a skin biopsy. Please see the "DNA" tab above for more information and click here to learn more.
VOLUME
For adults:
- We require a minimum of 3 mL of whole blood per clinical area for adults.
For pediatric cases:
- We prefer 3 mL per clinical area, but can accept 1.5 mL if necessary.
For newborns/infants:
- We accept small-volume microtubes (0.5-mL capacity) from capillary blood collection (heel or finger stick). We require 3 full small-volume tubes per clinical area.
Container
Containers acepted:
- Specimens should be sent in EDTA purple-top or pink-top tubes. We accept both K2EDTA and K3EDTA.
- Please see the post-mortem specimens tab for details on gray-top tube specimens.
Labeling
Each tube must be labeled with:
- The patient’s full name
- One additional unique identifier:
- Date of birth
- Medical record number
- IB number, if placed by submitting clinician
- Invitae test order ID (RQ#)
- Specimen collection date
The patient name and the additional unique identifier written on each tube must
match the name and identifier provided when the test order was placed.
Storage & Stability
We recommend using overnight shipping the same day that the blood is collected.
- Blood can be kept at room temperature for up to 48 hours.
- We request that blood is refrigerated no longer than two weeks.
- Please do not freeze blood as deletion/duplication analysis is not supported for frozen or partially frozen blood.
Documentation
A printed copy of the online requisition form must be submitted with the specimen. You will be able to print a copy of the requisition form after you have completed the online requisition process.
Shipping requirements
Blood should be shipped overnight at room temperature. We recommend including cold packs when shipping from outside the US and Canada in hot weather or if shipping is expected to take longer than overnight to keep the specimen at 2 to 8 degrees Celsius (35.6 to 46.6 degrees Fahrenheit). Frozen blood should be shipped overnight using cold packs.
To assist with specimen collection and shipping, you can request a free Invitae blood collection kit by submitting our online
Request a Kit form.
If you are sending more than one kit in a given day to Invitae, you can include up to four kits into the same FedEx Clinical Pak envelope for your convenience. If multiple kits do not fit well into a single envelope for any reason, please separate them into as many envelopes as needed.
Alternatively, you can send us the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the
FedEx Packaging Guidelines for Clinical Samples). Please
contact Invitae’s client services team to obtain the FedEx account number. (Please note that pricing outside the US does not include shipping fees.)
Shipping address:
Attn: Client Services
Invitae Corporation
1400 16th Street
San Francisco, CA 94103
Invitae accepts packages Monday through Friday. We recommend that you send your package so that it leaves your facility Monday through Thursday. Please do not request Saturday delivery. Invitae follows the
FedEx Holiday Service Schedule.
If you ship your specimen from outside the United States, your shipping carrier will require three copies of a commercial (pro-forma) invoice. A sample invoice is
available here. Please be sure to also include a customs declaration form. A sample customs declaration form is
available here.
Assay limitations
At this time, we cannot accept DNA specimens for exome testing. For panel testing, deletion/duplication analysis is not guaranteed for DNA specimens regardless of tissue source. Deletion/duplication analysis will be attempted for all DNA specimens; however, the success rate varies depending on specimen quality. If you require deletion/duplication analysis, please provide a whole blood or saliva specimen.
Please see the flyer
Optimizing for DNA specimen success at Invitae for more information.
Specimen return and billing policy
Invitae performs an initial quality-control (QC) analysis on all DNA specimens received. If your DNA specimen fails this QC step, we will contact you and gladly return or safely dispose of any remaining DNA specimen at no charge. Please be aware that DNA specimens that pass initial QC may still fail to produce deletion/duplication results.
Specimen types accepted
We accept DNA purified from peripheral venous whole blood for panel or single-gene testing (although not for exome testing).
DNA must be extracted in a CLIA or other suitably certified laboratory.
DNA from the following sources is also accepted; however, DNA isolated from these sources is more likely to fail to meet our quality standards for read-through sequencing and deletion/duplication analysis:
- Frozen blood
- Buccal swab/scrape
- Saliva
- Mouthwash (oral rinse)
- Muscle, skin, or liver tissue
- Cultured fibroblasts
- Cord blood collected at birth, but not prior to birth
DNA from the following sources is not accepted:
- Chorionic villus sampling
- Amniocytes
- Products of conception or abortus
- Tumors
- Peripheral blood or saliva of patients with an active hematologic malignancy in circulation
- Paraffin-embedded tissue, regardless of whether or not it is fixed in formalin
Amount & concentration
- 8 µg of DNA in TE. We recommend PicoGreen for quantifying the DNA specimen. Note that the full amount will likely be consumed during our laboratory processes.
- DNA must be at a minimum concentration of 50 ng/µl.
- When sending DNA at higher concentrations, the minimum volume is 75 µl.
Container
Our preferred container type is a 2 mL Fisher brand freestanding microcentrifuge tube with screw cap; however, we will accept DNA in any sterile plastic tube.
Labeling
The DNA container must be labeled with:
- The patient’s full name
- One additional unique identifier:
- Date of birth
- Medical record number
- IB number, if placed by submitting clinician
- Invitae test order ID (RQ#)
- Specimen collection date
The patient name and the additional unique identifier written on the container must match the name and identifier provided when the test order was placed.
Documentation
The following additional information is required for DNA specimens:
- Collection date
- Source of the DNA (which tissue or specimen type?)
If submitting a paper order form, please handwrite this information on the form. If ordering online, you will be prompted print a copy of the online requisition form where you can handwrite this information.
Shipping requirements
DNA specimens should be shipped overnight at room temperature. We recommend including cold packs in hot weather or if shipping is expected to take longer than overnight to keep the specimen at 2 to 8 degrees Celsius (35.6 to 46.6 degrees Fahrenheit). Frozen DNA specimens should be shipped overnight using cold packs.
Please send the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the
FedEx Packaging Guidelines for Clinical Samples). Please
contact Invitae’s client services team to obtain the FedEx account number. (Please note that pricing outside the US does not include shipping fees.)
Shipping address:
Attn: Client Services
Invitae Corporation
1400 16th Street
San Francisco, CA 94103
Invitae accepts packages Monday through Friday. We recommend that you send your package so that it leaves your facility Monday through Thursday. Please do not request Saturday delivery. Invitae follows the
FedEx Holiday Service Schedule.
If you ship your specimen from outside the United States, your shipping carrier will require three copies of a commercial (pro-forma) invoice. A sample invoice for DNA is
available. Please be sure to also include a customs declaration form.
After the death of a loved one from a suspected inherited condition, post-mortem genetic testing may provide valuable information for family members. Post-mortem testing may help confirm the deceased person’s cause of death, as well as clarify whether family members could benefit from genetic testing for the same condition.
Post-mortem genetic testing involves consideration of several important factors prior to testing. Below is general information about Invitae’s testing process for post-mortem analysis. Due to the sensitive nature of this type of analysis and these specimens, we require that clinicians
contact us before sending a post-mortem specimen. Please note that at this time, we do not conduct exome testing on post-mortem samples.
Specimen types
Please refer to the whole blood or DNA tabs on this page for specimen requirements.
Specimen quality
The success of genetic testing is dependent on specimen quality. While we make every effort to generate complete test results, this may not always be possible if a specimen is of poor quality. Deletion/duplication testing is not guaranteed for DNA isolated in other labs or for frozen blood.
Container
Containers accepted for whole blood post-mortem specimens:
- We prefer specimens sent in EDTA purple-top or pink-top tubes. We accept both K2EDTA and K3EDTA.
- We accept specimens sent in gray-top tubes containing sodium fluoride and either potassium oxalate or Na2EDTA. Deletion/duplication analysis is not guaranteed for these specimens.
Specimen storage & send-out
Invitae is unable to store or hold specimens at this time. We encourage consideration of DNA banking through other facilities specifically focused on long-term DNA storage.
Specimens received that do not meet Invitae’s minimum requirements for testing may be returned to the sender. Specimens that meet minimum requirements will start the testing process and will likely be consumed.
Payment & billing
Families have the option of paying $250 per
clinical area for testing when the test is ordered online by a clinician. For this option, a family member agrees to register the deceased patient through Invitae’s online
patient portal and provide payment by credit card upfront and in full. This family member must be the authorized next-of-kin because the portal will display test results, and these can only be accessed by authorized individuals. Please note that insurance does not typically cover post-mortem testing, so we cannot submit claims to insurers for tests performed on deceased patients.
Results reporting
The results of genetic testing are reported to the ordering clinician. The family member who registered the patient in the Invitae patient portal may request a copy of the patient’s test results, which will become available online once reviewed and released by the ordering clinician.
Shipping requirements
Please refer to the whole blood or DNA tabs on this page for shipping requirements for these specimen types.
Specimen types
Specimen types accepted:
- Saliva collected and stored in an OrageneTM self collection kit (OG500/OGD500/OGD510).
- Please note that this kit requires 2 mL of saliva for OG500/OGD500 and 1 mL of saliva for OGD510, and involves active (not assisted) saliva donation.
- Saliva collected and stored in an OrageneTM assisted saliva collection kit (OG575/OGD575).
- This kit is appropriate for young children or patients where active saliva donation is difficult.
- Due to the smaller volume collected in these kits (0.75 mL per kit), we request that two tubes be filled per order.
To request a free OrageneTM kit, visit our Request a Kit page.
- We are unable to accept:
- Saliva in any container other than the OrageneTM kits (OG500/OGD500/OGD510/OG575/OGD575)
- Buccal swabs and mouthwash specimens
- Saliva (or blood) from patients who have had an allogeneic (non-self donor) bone marrow transplant.
- Saliva (or blood) from patients who had a blood transfusion less than two weeks prior to specimen collection
Hematologic malignancy:
Results may be affected for blood or saliva samples from patients with hematological malignancies that are actively circulating in the peripheral blood. In such cases, a specimen type not derived from blood or saliva is suggested, such as gDNA from a skin biopsy. Please see the "DNA" tab above for more information and click here to learn more.
Labeling
The collection tube must be labeled with:
- The patient’s full name
- One additional unique identifier:
- Date of birth (MM/DD/YYYY)
- Medical record number
- IB number, if placed by submitting clinician
- Invitae test order ID (RQ#)
- Specimen collection date
The patient name and the additional unique identifier written on the tube must
match the name and identifier provided when the test order was placed.
Storage & Stability
Store saliva at room temperature, avoiding lengthy refrigeration. Although there are no special time requirements, we recommend that the specimen be mailed to Invitae soon after collection.
Documentation
A printed copy of the online requisition form must be submitted with the specimen. You will be able to print a copy of the requisition form after you have completed the online requisition process.
Shipping requirements
Ship at room temperature (overnight shipping is not necessary). To assist with specimen collection and shipping, you can request a free Invitae saliva collection kit by submitting a
Request a Kit form online.
Alternatively, you can send us the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the
FedEx Packaging Guidelines for Clinical Samples). Please contact Invitae’s
Client Services team to obtain the FedEx account number(please note that pricing outside the US does not include shipping fees).
Shipping address:
Attn: Client Services
Invitae Corporation
1400 16th Street
San Francisco, CA 94103
Invitae accepts packages Monday through to Friday. We recommend that the package leaves your facility Monday through Thursday. Please do not request Saturday delivery. Invitae follows the
FedEx Holiday Service Schedule.
If you ship your specimen from outside the United States, your shipping carrier will require three copies of a commercial (pro-forma) invoice. A sample pro-forma invoice is
available. Please be sure to also include a customs declaration form. A sample saliva customs declaration form is also
available.
