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Ordering Genetic Testing

What does Invitae test for?

Invitae offers full-gene sequencing and deletion/duplication analysis. You can order any combination of genes, disorders, and panels all for the same price*. To view our complete test catalog please visit, our Test Catalog page.

*Pricing per clinical area: List price of $1500, with discount to $950 for institutions and distributors under contract with Invitae, and payers who contract with Invitae under certain terms. Upfront patient-pay price is $475 for orders placed online and connected to a patient account. Pricing outside the US does not include shipping fees. Please contact Client Services for more information.

What sequencing methodology is used?

Invitae performs full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology. For more information about our assay, please visit our Assay page.

Does Invitae offer deletion/duplication analysis?

Yes, Invitae’s assay detects most deletion/duplication events encompassing a single exon or more. However, in some cases, specific genes and exons are excluded from analysis. Please consult our Gene List on our Order forms page for details.

Our copy number detection algorithm can also identify large deletion/duplication events that include and extend beyond a targeted gene, although the boundaries of those events cannot be determined beyond the gene itself. In that respect, the Invitae assay does not provide cytogenetic analysis for large chromosomal anomalies or copy-neutral changes, such as reciprocal translocations, uniparental disomies, or inversions (one exception: we offer the MSH2 exon 1-7 inversion).

Note: In August 2015 we started offering del/dup analysis for full PMS. For more information about our methods, please visit our Validation Studies page. (Deletion/duplication analysis is not guaranteed for gDNA samples.)

Does Invitae confirm variants?

Yes, Invitae does confirm variants. We perform orthogonal confirmation of clinically significant findings and have done so since we first started our clinical testing service. The confirmation techniques we use include Sanger sequencing, PacBio sequencing of circularized amplicons, array comparative genome hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA). To date we’ve performed confirmation on approximately 8,000 SNPs and small indels, and over 1,000 copy number variants. This number of variants represents what would ordinarily be found in a population of approximately 70,000 individuals undergoing genetic testing. For more information, please visit our Validation Studies page, which includes a link to our confirmation testing white paper.

Which variants get confirmed?

We have a robust system in place for identifying which variants require confirmation. Our confirmation rules for SNVs and indels (single base changes and small insertions and deletions) are as follows:

  • We confirm a variant if:

  1. It is confidently called by our computational pipeline and has been interpreted as likely pathogenic or pathogenic (disease causing). The only exceptions are variants that have already been whitelisted (see below).

  2. It is not called confidently by our computational pipeline and it has been interpreted as pathogenic, likely pathogenic, or a variant of unknown significance (VUS).

  • We do not confirm a variant if:

  1. It is confidently called and interpreted as a Variant of Unknown Significance.

  2. It is on our confirmation whitelist. To be on the whitelist, a variant must have been confidently called and confirmed with an orthogonal method 10 or more times in our lab. The creation of a whitelist follows the recommendation of the New York State Clinical Laboratory Evaluation Program, which proposed the concept. These variants tend to be common pathogenic variants in the population that have been seen and correctly called so many times that we are confident that no confirmation is needed. For a variant to attain whitelist status, it requires a large number of patients be tested and the variant to be detected and confirmed numerous times. As of October 2016, there were only ~70 variants on the list.

How do we confirm SNV and indel variants?

Our confirmation for SNVs and indels is performed with Sanger sequencing or PacBio long-read sequencing, depending on the need. For STAT tests that require a fast turn-around time, we use Sanger sequencing exclusively. Beginning in May 2016, other tests are confirmed by using PacBio technology. Before launching this assay we validated and then implemented a standard PacBio technique of circularizing the DNA and sequencing the template dozens of times, thereby lowering the error rate for PacBio sequencing to a level sufficient for clinical use. For more information, please visit our Validation Studies page, which includes a link to our confirmation testing white paper.

How do we confirm Copy Number Variants (CNVs)?

Invitae has always confirmed any reported CNV event by performing array comparative genome hybridization (aCGH) with a custom designed exon-focused microarray. This is the industry standard technique for these events.

Exceptions to our current CNV confirmation policy are:

  • PMS2: MLPA (multiplex ligation-dependent probe amplification), not aCGH, is used for exons 11-15 of PMS2.

  • PMP22 full gene duplication: This event has been whitelisted and no longer requires confirmation due to its high frequency and robust primary calling by our CNV calling algorithm from NGS results.

Does Invitae offer BRCA testing?

Yes, we offer full-gene sequencing and deletion/duplication analysis of BRCA1 and BRCA2, including all coding exons +/- 20 bp, as well as non-coding but clinically relevant SNVs and indels. For no additional charge, you can upgrade to one of our broader hereditary cancer panels, which also include other hereditary cancer genes.

Does Invitae offer follow-up family variant testing?

Yes. If the orginal proband was tested by Invitae, family variant testing is available to eligible family members for just $200 per gene for each family member. Visit our Family Variant Testing page to learn more.

Can I request further testing (re-requisition) for a patient sample that was previously tested at Invitae?

Yes. If you don't find the answers you're looking for, you can test more genes within the original clinical area tested for no additional charge (only genes available at the time of the original order are eligible). Invitae offers one re-requisition order at no additional charge within 90 days of the original report release date. Beyond 90 days after the original report release date, your patient will be billed $475 for re-requisitions related to the same clinical area. To learn more about this program, please visit our Re-Requisition page.

How do I submit an order?

Place your order online for more efficient order processing, faster report delivery, and access to additional online features. Setting up an account only takes a few minutes, and you can also browse and order directly from our online test catalog. You can also place a paper order as well.

To learn more about how to set up an account and place an order, visit our How to Place an Order page for more detailed instructions.

Does Invitae offer single-site testing?

Yes. Although Invitae does not offer single-site testing per se, we do offer both family variant testing and VUS resolution. Both of these programs involve full analysis of the gene in which the original family member’s variant was identified. The report will include the status of the familial variant as well as any other pathogenic or likely pathogenic variant(s) identified in that gene. Visit our Family Variant Testing and VUS Resolution pages for details on each of these programs.

Can I fill out a requisition on behalf of a physician in my clinic?

Yes. Keep in mind that whoever places the order will be the primary point of contact for status updates and outreach related to the requisition. If you are ordering as a clinical representative, enter the ordering physician’s details under "Clinical Team" and be sure enter the physician’s email address if he or she would like to receive a copy of the report.

How can I make changes to a requisition that I have already submitted?

If you wish to make any changes to a completed requisition, please contact Client Services and we will be able to assist you.

Sample and Shipping Requirements

What are the sample requirements?

Invitae’s preferred sample type for our next-generation sequencing (NGS) assay is 3 mL of peripheral whole blood in a purple-top EDTA tube. We also accept saliva samples and gDNA purified from peripheral venous whole blood. For detailed sample and shipping requirements please visit our Sample Requirements page.

Can you accept pre-natal samples?

Not at this time. We can test prospective parents for carrier status but do not offer pre-natal testing for already expectant mothers.

Does Invitae provide sample collection kits?

Yes, we can send Sample Collection Kits for blood or saliva to you free of charge. These are equipped with all necessary shipping materials. Both the blood kit and the saliva kit can be used for any test on the Invitae menu. Visit our Request a Kit page to learn more.

Can you arrange a blood draw for my patient?

Yes, Invitae can help schedule a blood draw appointment for your patient at your office or at your patient's home. We offer coverage across the USA and Canada, and the service is provided at no additional charge. Visit our Request a Kit page to learn more about scheduling a blood draw appointment.

Are there any special instructions for saliva samples?

Invitae's saliva sample collection kit provides the materials and instructions for collecting and stabilizing saliva specimens. Please do not use buccal swabs or any other collection kit.

Before collecting a saliva sample using Invitae's kit, do not eat, drink, smoke, or chew gum for 30 minutes. In addition, do not remove the plastic film from the funnel lid.

Most people take between 2 and 5 minutes to deliver a saliva sample, following these steps:

  1. Spit into funnel until the amount of liquid saliva (not bubbles) reaches the fill line.
  2. Hold the tube upright with one hand. Close the funnel lid with the other hand by firmly pushing the lid until you hear a loud click. The liquid in the lid will be released into the tube to mix with the saliva. Make sure that the lid is closed tightly.
    1. We request that a full 2ml of saliva be donated prior to capping the kits to be valid for our genomic analysis. Should you not have completed the 2ml donation before capping the tube, please request another collection kit.
  3. Hold the tube upright. Unscrew the funnel from the tube.
  4. Use the small cap to close the tube tightly.
  5. Shake the capped tube for 5 seconds. Discard or recycle the funnel.

Multilingual user instructions and instructional videos are available online for both the US kits and international kits.

If a patient has difficulty completing the saliva donation, the following suggestions can help increase saliva production:

  1. Rub your cheeks or the roof of your mouth with your tongue.
  2. Imagine a candy, lemon or favorite food in your mouth.
  3. Place a small amount of sugar (not candy) on the tongue. Allow the sugar to dissolve in your mouth.

After completing the saliva donation, there are no special storage requirements shipping the tube to Invitae. The saliva kit is stable at room temperature. For more information, please contact Client Services.

What is the minimum age requirement for a child to use the saliva kits?

We find that typically a child of 5 years or more is able to adequately donate enough saliva for the test requirements. However, this varies from child to child. We require the full 2ml of saliva, no matter the age of the person tested. If a child is unable to complete the full 2ml donation, we suggest using a blood sample instead.

Does Invitae accept genomic DNA extracted in other laboratories?

We do accept and process gDNA specimens. However, at this time, deletion/duplication analysis is not guaranteed for gDNA samples regardless of tissue source. Deletion/duplication analysis will be attempted for all gDNA samples; however, the success rate varies depending on sample quality. If you require deletion/duplication analysis, please provide a whole blood sample. For more information, please see the “gDNA samples” tab on our Sample Requirements page or contact Client Services.

Do you accept post-mortem samples?

Invitae accepts post-mortem samples that meet the sample requirements described on our Sample Requirements page. Invitae does not provide DNA banking services and is unable to return any remaining sample after analysis at this time. Please contact Client Services before sending us a post-mortem sample.

What paperwork is required with each specimen?

A printed copy of the completed requisition form must accompany each specimen. You can download and print requisition forms after completing the online requisition process. If Invitae will be billing a US insurance provider, we require the insurance information or a copy of the front and back of the patient’s insurance card. A Letter of Medical Necessity (LOMN) is also preferred, but not required. If the patient has Medicare, we require Invitae’s Medicare Criteria form as well as the patient consent form, which must be signed on or before the date of the blood draw. If the patient does not meet Invitae’s Medicare criteria for testing, a Letter of Medical Necessity is also required. International shipments have additional requirements; please see the Sample Requirements page for more information.

How do I send a specimen to Invitae?

Within the US, our kits come with a shipping label; alternatively, send the sample in a crush-proof container via FedEx Priority Overnight to the following address:

Attn: Client Services
Invitae Corporation
475 Brannan Street, Suite 230
San Francisco, CA, 94107

Please contact Client Services for Invitae’s FedEx account number. If you choose to use your institution’s own shipping method, please send the tracking number to We accept deliveries Monday through Friday, excluding holidays.

Does Invitae pay for shipping?

Yes, Invitae pays for shipping within the US. Please contact Client Services for the FedEx account number and ship the sample overnight.

Does Invitae accept weekend or holiday deliveries?

Weekend Deliveries: No. Invitae accepts packages Monday through Friday. We recommend you send your package so that it leaves your facility Monday through Thursday. Please do not request Saturday delivery. Please ship overnight via FedEx in accordance with their guidelines, using the FedEx account number supplied by Invitae’s client services team.

Holiday Deliveries: Invitae follows the FedEx Holiday Service Schedule.

How quickly after the blood draw does a sample need to be shipped to Invitae?

We recommend overnight shipping of the sample the same day the blood sample is collected. If stored at room temperature, the blood sample is viable for up to 48 hours and, if refrigerated, up to one week. Please do not freeze the blood sample.

Billing and Insurance

What is the price for Invitae testing?

Invitae offers genetic analysis to identify the cause of a disease affecting an individual or a family. Our pricing is per clinical area, referring to disease areas such as oncology, cardiology, and neurology.

In rare cases, a family may be affected by more than one genetic condition, and in these cases it is possible to requisition genes or panels relevant to more than one clinical area. Please contact Client Services for more information.

In the US, the price per clinical area is:

  • $1,500: List price
  • $950: Price for institutions and distributors under contract with Invitae and payers who contract with Invitae under certain terms
    • For more information about contract terms, please contact Client Services.
  • $475: Patient pay price
    • Available as a prepaid option only. Invitae will not submit to insurance or offer advice regarding insurance submission decisions.
    • Patient agrees to register online and sets contact preferences.
    • Patient assistance programs are not available for patient prepay option.
    • Patient prepay orders must be placed online, including the requisition from the clinician.
    • For international orders, the patient prepay option does not include shipping.

It is important to note that for patient pay pricing, we require patients to go through their healthcare provider to order our tests. Healthcare professionals are fundamental to ordering the right test for the right patient and in interpreting genetic information. Invitae believes that patients should own and control their own genetic information, thus we do not require our patients to sign their data away; we allow them to opt out and still receive the test. While genetic information is more valuable when shared, patients own their data and should decide what they want to do with it.

What payment options are available?

We offer the following billing options; to learn more about each of these choices, please visit our Billing Page.

  • Direct patient payment: The patient pays in full upfront via credit card (we accept Visa, Mastercard, American Express, and JCB). Payment can also be submitted by wire transfer. Please contact Client Services for further information.
  • Institutional billing
  • Third party insurance (US only): Regardless of whether a patient is in-network or out-of-network, Invitae's goal is that a patient will never be surprised by an out-of-pocket balance. To help provide patients with accurate information regarding out-of-pocket insurance requirements, Invitae may conduct a benefits investigation. Where Invitae's benefits investigation discloses a plan that requires a patient out of pocket in excess of $100, Invitae will notify the patient. Invitae has a Patient Assistance Plan that may apply in these situations. If a patient does not qualify for that plan they may still elect the upfront patient-pay price of $475, or opt to cancel the test and avoid all charges.
  • Medicare: Invitae can bill Medicare; See the Medicare Requirements Form on the Order Forms page of our website. Patient informed consent is required for all Medicare orders and must be signed on or before the date of sample collection. A Letter of Medical Necessity is required for Medicare patients who do not meet criteria for testing. Patient hospital status is also required if your patient has been a hospital inpatient within 14 days of the collection date (or has undergone a procedure within a hospital and was discharged the same day), a discharge date is required. Invitae cannot bill Medicaid plans, but Medicaid patients may qualify for our Patient Assistance Program (PAP).

For those who qualify, we have a Patient Access Program (PAP) to reduce patient out-of-pocket costs. Please contact Client Services or see the FAQ below for further information.

What is the Invitae Patient Assistance Program?

Invitae is committed to making genetic testing affordable and accessible by removing financial and logistical barriers. Our Patient Assistance Program provides:

  • a partial or total reduction in out-of-pocket costs for patients with commercial insurance who meet certain financial and clinical criteria
  • a complete elimination of out-of-pocket costs for uninsured patients and patients insured by Medicaid (state or managed) who meet certain financial and clinical criteria

The Patient Assistance Program is available to patients in the US who both meet relevant clinical criteria for the ordered test and have income at or below four times the US poverty guidelines.

In 2016, this means that an individual who earns less than $48,000 per year would qualify for the program. The qualifying income level increases by $16,000 for each additional member of the household.

Qualifying income levels in 2016


Less than $48,000

Family of 2

Less than $64,000

Family of 3

Less than $80,000

Family of 4

Less than $96,000

Family of 5

Less than $112,000


Uninsured patients: For patients who meet this income standard and are uninsured, Invitae will waive fees for the patient’s test under the program.

Patients with Medicaid: For patients who qualify for the program and are uninsured, Invitae will waive fees for the patient’s test under the program. In addition, Invitae will require the patient’s physician to certify that Medicaid will not be billed for the test.

Patients with commercial insurance: For patients who qualify for the program and are insured with commercial insurance (not Medicare, Medicaid, or similar government insurance programs, Invitae will discount tests on a sliding scale according to income. Patients below the national poverty line (in 2016, approximately $12,000 for an individual plus $4,000 per additional family member) will have balances waived entirely. Patients between the national poverty line and four times the national poverty line will receive discounts on a sliding scale.

Documentation: We ask for proof of income documentation in the form of an IRS Form 1040. If a 1040 is not available, please contact Client Services to discuss other options. Applications are available on the Forms page.

What is necessary for Invitae to bill insurance?

Please be prepared to provide the following information with your order:

  • Patient's first and last name, phone number, and mailing address
  • A copy (front and back) of the patient's insurance card
  • Updated ICD-10 codes
  • Letter of Medical Necessity

This information can be entered upon requisitioning when choosing third party insurance billing as the form of payment.

What ICD-10 code(s) should I use for the Invitae test?

Invitae defers to the ordering healthcare provider to select the appropriate diagnosis codes for each order. To identify the appropriate ICD-10 code(s), we recommend reading through the resources posted on the Centers for Medicare & Medicaid Services (CMS) website. In addition, many helpful third-party tools exist to translate ICD-9 codes to ICD-10 codes—these can be a good starting point to learn the new codes, although providers should use their best medical judgement as there often are not one-to-one mappings. If you need help, please contact client services.

Does Invitae offer pre-authorizations?

Regardless of whether a patient is in-network or out-of-network, Invitae's goal is that a patient will never be surprised by an out-of-pocket balance. To help provide patients with accurate information regarding out-of-pocket insurance requirements, Invitae may conduct a benefits investigation. Where Invitae's benefits investigation discloses a plan that requires a patient out of pocket in excess of $100, Invitae will notify the patient. Invitae has a Patient Assistance Plan that may apply in these situations. If a patient does not qualify for that plan they may still elect the upfront patient-pay price of $475, or opt to cancel the test and avoid all charges.

What is Invitae’s NPI number?


What is the CPT code for the test I’m ordering?

If you are ordering a test that includes BRCA1 or BRCA2, the CPT code is 81211. For all other tests, the CPT code to use is 81479 - unlisted molecular pathology procedure.

Portal Account

What does an Invitae account let me do?

With an Invitae account you are able to:

  • Search our online test catalog for genes and conditions of interest and complete your entire order online.
  • Design and save your own custom orders.
  • Quickly upload documents such as insurance paperwork, medical records, family history, and previous test results.
  • Track the status of your order in real time.
  • Communicate with Invitae staff and upload documents through our secure messaging exchange system.
  • View and download your final report.

What is my email address used for?

Your email address serves as your username for your Invitae account. Any notifications regarding a requisition you have submitted will go to this email address, including when your report is ready or when you receive a secure message from a member of the Invitae team.

What is Order History?

The Order History page is displayed upon logging in. Order History displays your past and current requisitions and their details. You can click on any RQ number for more information about that requisition. You also have the ability to share results and view or send secure messages. To place an order, please start by viewing our Test Catalog.

Can I share tracking and results?

With patients: if you enter the patient’s email address, he/she will be prompted to create an account to track the status of their order. If you click “Release Results” on the Order History page, the patient will also be able to view his/her report when it is ready.

With colleagues: you can choose to share a requisition with any colleagues by entering his/her email addresses under the Sharing tab as part of the ordering workflow, or through the Order History page after an order is submitted. Each colleague will be prompted to create an account to have shared access to that requisition.


What is the turnaround time?

For non-STAT panels, the turnaround time is three weeks on average; for the Invitae Breast Cancer STAT panel, it is 8-12 calendar days. Please note that the turnaround time for all tests begins when Invitae receives the sample.

Will ordering a fewer genes result in a shorter turnaround time?

No, our average turnaround time for all non-STAT tests is three weeks from the time Invitae receives the sample. For the Invitae Breast Cancer STAT Panel, the turnaround time is 8-12 days; please note that the genes on this panel cannot be customized for the initial order.

Does Invitae offer expedited report delivery?

The Invitae Breast Cancer STAT Panel offers rapid results in 8-12 calendar days. This panel tests 7 genes using the same high quality, peer-reviewed process as Invitae’s other diagnostic tests. Like other Invitae tests, it also includes the option to re-requisition additional genes if needed within 90 days of receiving STAT report, at no additional charge.

How will I get the report?

When the report is ready, you will receive an email notification and be able to view and download it directly from your Invitae account. Contact Client Services if you would like us to send the report via fax.

What does an Invitae clinical report include?

Results and their clinical interpretations are presented in the form of a readily comprehensible clinical report with full transparency into the performance characteristics for each condition or gene. A sample report can be found on the Order Forms page of our website.

How does Invitae classify genetic variants?

Invitae’s team of scientists, physicians, and genetic counselors works together to provide high-quality and rigorous variant classifications. Invitae’s method of variant classification is a systematic process for assessing the evidence gathered during variant review and applying a formal variant classification based on this evidence. Our method of variant classification adheres closely to the recommendations from the American College of Medical Genetics (ACMG). These guidelines for variant interpretation represent the industry standard among clinical genetic testing laboratories. To learn more, visit our Variant Classification page.


Is Invitae Clinical Laboratory Improvement Amendments (CLIA) certified?

Yes. Our CLIA ID number is 05D2040778. A copy of our license can be downloaded on the licensing information page.

Is Invitae College of American Pathologists (CAP) accredited?

Yes. Our CAP LAP number is 8770489 and our AU-ID is 1703789. A copy of our license can be downloaded on the licensing information page.

Do you accept samples from all states?

Yes we currently accept samples from all US states including New York. Please visit our New York approved page to download lists of the tests and genes which are approved or under conditional approval by New York State to be performed at Invitae.


What is “Free the Data”?

Invitae is a supporter of Free the Data!, a grassroots movement where patients, physicians, and researchers are contributing their genetic variants to support genetics research, advance the understanding of disease, and enhance treatment options. Knowledge is more valuable when shared, and when we freely contribute our resources to the wider research community, we increase the quality and utility of the genetic data available to all. Visit the Free the Data website to learn more.

What is Clinvitae?

Invitae believes knowledge is more valuable when shared. To this end, we have created Clinvitae, a database of clinically observed genetic variants aggregated from public sources. ClinVitae provides a fast and intuitive engine for searching for variants across all these sources simultaneously. It is operated and made freely available by Invitae at

Clinvitae aggregates data from the following sources:

  • ClinVar, including variants contributed by Invitae.
  • Emory Genetics Variant Classification Catalog
  • ARUP Mutation Databases
  • Carver Mutation Database
  • Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer

Invitae is committed to making our clinically observed variants publicly available.

What is the Family History Tool?

The Invitae Family History Tool is a free app to build, modify, share, and save patient pedigrees. It is available through the web or as an iPad app, and information integrates seamlessly with our online ordering process. If you already have an Invitae account, you can use the same credentials to sign into the Family History Tool. To learn more and download the Family History Tool, please visit our Family History page.