Provider FAQs: Ordering

Invitae is dedicated to lowering the barriers for clinicians and patients to use genetic information across all stages of life—from preconception through adult diagnostics.

Adult inherited testing

Invitae offers gene panels and single-gene testing for a broad range of clinical areas including hereditary cancer, cardiology, neurology, pediatric genetics, metabolic disorders, immunology, and hematology. To view our complete adult inherited test catalog, please visit our test catalog.

For these tests, Invitae offers:

• full sequencing with deletion/duplication analysis included at no additional charge
• the ability to order any combination of genes and panels within a single clinical area and to re-requisition additional genes if needed, all at no additional charge
• an innovative family follow-up testing program for the family of patients who test positive
• clinical support services, including on-demand clinical consultations for healthcare providers and post-test genetic counseling services for patients

Proactive testing

Invitae’s genetic health screens are a proactive option for healthy adults who want to understand their DNA and focus on prevention. Test results have a clear medical basis and are clinically actionable. To view our complete proactive offering, please visit our proactive testing page.

Pediatric testing

Invitae’s pediatric genetics offering includes chromosomal microarray analysis (CMA) as well as gene panels and whole exome testing.

Chromosomal microarray for developmental disorders - Invitae offers microarray testing for individuals with developmental disorders, congenital anomalies and/or autism spectrum disorder. Our testing evaluates for chromosomal abnormalities that can result in disorders of development. Learn more about microarray testing options here.

Pediatric panel testing - Pediatric panel testing covers a wide range of indications, including epilepsy, developmental disorders, cardiovascular disorders, cystic fibrosis and chronic pancreatitis, skeletal disorders, skin disorders, and pediatric oncology. Pediatric panel testing offers the same benefits as our adult inherited testing, including full sequencing with deletion/duplication analysis; the ability to order any combination of genes and panels within a single clinical area and to re-requisition additional genes if needed; family follow-up testing; and clinical support services.

Invitae Exome sequencing - Invitae Exome sequencing provides a rigorous analysis of an individual’s exome through a systematic evaluation of genetic variants informed by the patient’s clinical presentation and medical history.

Yes, for diagnostic panel testing, Invitae's re-requisition service is offered at no additional charge—so you have the flexibility you need to order the right genes at the right pace.

To learn more about this program, please visit our re-requisition page.

Please note, we are unable to offer re-requisition from a panel test to exome at this time. If you would like to proceed with the Invitae Exome sequencing, please submit a new order and specimen(s).

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. See Invitae's cancer panels here.

We do not offer a test that is specifically limited to the 3 common Ashkenazi Jewish mutations in BRCA1 and BRCA2; however, the Invitae Hereditary Breast and Ovarian Cancer Syndrome Panel will detect the 3 common BRCA1/BRCA2 variants in the Ashkenazi Jewish population, along with any other reportable variants in those genes.

Yes. Invitae offers the ability to request a Tyrer-Cuzick score on hereditary cancer reports that include at least BRCA1 and/or BRCA2. For more information on Tyrer-Cuzick, please see this document.

Although Invitae does not offer targeted-mutation analysis 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 follow-up testing page for additional information.

We currently offer testing for some nuclear-encoded mitochondrial genes. However, we do not offer testing for mitochondrial encoded genes.

The genetic evaluation of individuals with autism spectrum disorders (ASDs) should be customized to their medical, developmental, and family history.^1,2

Invitae offers Chromosomal Microarray Analysis (CMA), which is recommended by ACMG as a first-tier clinical diagnostic test for individuals with ASDs. CMA in this patient population has an overall diagnostic yield of approximately 10%.¹ Genetic testing for Fragile X - Related Disorders is also available at Invitae and supported as routine genetic testing for males with autism by ACMG, with a diagnostic yield of 1-5%.¹ The American Academy of Pediatrics also supports CMA, fragile X syndrome testing, and/or testing for specific diagnoses, such as Rett syndrome in females with autism and characteristic clinical features.²

We also offer the Invitae Neurodevelopmental Disorders Panel, which analyzes over 200 genes associated with a spectrum of neurodevelopmental disorders (NDDs), including developmental delay, intellectual disability, and autism spectrum disorder. Given the clinical overlap of these conditions, broad panel testing allows for an efficient evaluation of many potential genes based on a single clinical indication. This panel complements CMA (+/- fragile X syndrome testing) to evaluate variations (e.g. single base pair changes, indels, exon-level deletions/duplications) within genes associated with NDDs that are not captured by CMA.

For patients who remain on a diagnostic odyssey following more routine genetic evaluations for ASDs, Invitae also supports Exome Sequencing. In a recent meta-analysis investigating the diagnostic yield of exome for NDDs, the diagnostic yield of exome overall was 36% and 31% for isolated NDD.³ Furthermore, ACMG supports exome as a first- or second-tier test for patients with developmental delay or intellectual disability with onset prior to age 18 years. Formal recommendations for exome in individuals with ASDs remain under consideration by ACMG.⁴

References
1. Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399-407. PMID: 23519317.
2. Hyman SL, Levy SE, Myers SM; Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Identification, evaluation, and management of children with autism spectrum disorders. Pediatrics. 2020;145(1):e20193447. PMID: 31843864.
3. Srivastava S, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019;21(11):2413-2421. PMID: 31182824.
4. Manickam K, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. PMID: 34211152.

Trio exome sequencing is currently designed to test the parents and the child. While we recognize that in some instances analysis could be more powerful with a different combination of relatives, our current process does not support other combinations for duos or trios (affected or unaffected). We aim to offer analysis of non-traditional duos/trios in the future.

At Invitae, we do not accept family member samples for positive control when the variant is a single nucleotide variant or multi-exon copy number variation.

Instead, we request a copy of the family member's report with the relevant variant information (coding DNA and protein coordinates) included. Positive controls are not needed in these cases because we use full next-generation sequencing and del/dup assay for all testing, including family variant testing. We do not use a PCR/Sanger test like some other labs do.

Therefore, the assay that we use for family variant testing is fully validated for all of the genes we routinely test, and our ability to detect variants of this class using this assay has been well established.

Furthermore, our capture pull-down is not susceptible to the kind of allele-dropout that can be an issue with PCR/Sanger-based mutation detection. For all of these reasons, a positive control is not required/accepted for high-confidence family variant testing.

If a gene is not listed in our menu, we are not able to offer customized testing for that gene. However, we continuously review the content of our testing menu and welcome suggestions. You are welcome to submit a gene/panel suggestion by contacting us here.

Diagnostic panels and proactive testing: Place your order online for a more efficient order processing, faster report delivery, and access to additional online features. You can also use a paper requisition form (available on our forms page).

Exome testing: Exome testing is ordered exclusively online. 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.

For more information on ordering via Invitae's online portal, please see the portal ordering FAQ page.

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 in the Order Authorization portion of the order. Please be sure to enter the physician’s email address if he or she would like to receive a copy of the report.

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

If you wish to cancel an order for which the specimen has already arrived at Invitae, please submit the order cancellation request form and submit it to Client Services by emailing clientservices@invitae.com or faxing 415-276-4164 it. Alternatively, cancel an order through your provider portal.

Invitae prides itself on the quality of its gene curation. Our primary panels contain genes for which there is definitive evidence in the literature or from expert consensus that variants in these genes cause specific diseases. Preliminary-evidence genes are genes that are also selected from a review of the literature and expert recommendations, but are given the preliminary designation because currently there is only early evidence of a relationship between variants in these genes and specific diseases.

Some genes are designated preliminary-evidence because rare variants have been identified in patients, but these variants have not been proven to cause the disease. For others, the association between the gene and a specific disease has not been definitively established and additional studies are needed to strengthen the evidence. We highlight the difference between definitive-evidence and preliminary-evidence genes to help clinicians choose the most appropriate test for their patient.

Why would I include preliminary-evidence genes in my panel?

Adding preliminary-evidence genes can increase the number of variants of uncertain significance (VUS), and can reveal pathogenic variants of uncertain relevance to the patient’s condition. However, this uncertainty may be resolved as new information becomes available, and some clinicians may wish to include these genes in their investigation.

How can I add preliminary-evidence genes to a primary panel?

Preliminary-evidence genes can be added by simply selecting the “opt-in” checkbox next to the list of genes.

What if I am unsure what to order?

With our flexible test options, clinicians can feel confident starting with only the genes they are comfortable with. Then, if they do not get the answers they need with their initial selection of genes, clinicians can submit a re-requisition for the analysis of additional genes within the original clinical area, at no additional charge.^* We also offer clinical consultation services for clinicians who wish to discuss cases with genetic-counseling experts.

*Please see our flexible follow-up testing page for requirements and additional details on re-requisition.

Invitae’s pricing structure is designed to support flexibility and the ability to customize orders, while keeping prices low.

Our prices for diagnostic panel tests are listed “per clinical area,” which means that a clinician can select a curated test, combine multiple tests, or customize their own test for each patient—including re-requisition—for the listed price as long as all genes ordered fall within a single clinical area.

Orders that include genes in two different clinical areas will require two sample tubes and will result in two reports generated by two different teams of clinical experts. Please be aware that your order will also represent two billable events, one for each clinical area.

Please view our online test catalog to see the clinical areas. Note that all curated panels listed in the catalog—including their preliminary-evidence and add-on genes—fall within a single clinical area.

For orders that are part of our proactive health menu
No, Invitae will not accept orders on minors for any of our proactive health screens. Proactive health screens are intended for healthy adults who wish to learn more about their genetic risks for a number of inherited disorders.

For orders that are part of our diagnostic menu
Invitae will accept orders regardless of affected status or age as we ultimately defer to the ordering provider to determine the most appropriate test for their patients. Please note that there are genes on our diagnostic menu in which pathogenic and likely pathogenic variants are associated with adult-onset conditions (either established or preliminary evidence). Some professional medical societies encourage the deferment of predictive or pre-dispositional testing for adult-onset conditions until adulthood unless there is a clinical intervention appropriate in childhood (PMIDs 26140447, 23428972).

For questions or concerns, please contact our clinical consult team at clinconsult@invitae.com.

All of Invitae’s tests must be ordered in consultation with a clinician. Patients in the US are able to initiate an order online for proactive or diagnostic testing. For any order initiated online by a patient, an independent clinician will review and authorize the order, as well as review the results before they are released to the patient.

We’ve made genetic testing even more convenient for you and your patients. You can now share custom links with your patients; the links will direct your patients to start an order for specific tests you’ve selected and an independent physician will complete the order. Just log into the Invitae portal to track the progress of the order and view results when they’re ready.

What tests can I direct my patients to?

Tests available include:

• Invitae Cancer Screen
• Invitae Cardio Screen
• Invitae Genetic Health Screen

Currently, no diagnostic tests are available in this workflow. You can choose to offer your patients all tests, only proactive tests or specific single tests.

How do I get my custom links?

Contact your Invitae representative to get your custom links. Your representative will ask you which tests you would like to direct your patients to and which of your clinic staff should be the point person to track order status and results in their Invitae portal. Your representative can also provide brochures that include your custom link, to make it easy to share the link with your patients.

How do I distribute the links to my patients?

Your Invitae representative will send you flyers that describe the process and include your custom links. We suggest emailing the flyer to your patients, handing them a hard copy, or simply keeping hard copies of the flyers in your waiting room.

What happens when my patient follows the link I gave them?

When your patient follows the link, they will land on a webpage that explains the order process and allows them to select a test, or simply check out with the test you’ve pre-selected for them. After completing the checkout process, patients are directed to fill out their personal and family health history. Once they’ve completed their health history, we send their information to an independent physician, who reviews and places the test order, if appropriate. In the meantime, we send a saliva collection kit to your patient; they provide their sample from home and send it back to our lab. When the results are ready, both you and your patient will get emails directing you to view the results in your Invitae portal account.

Can my patients bill their insurance for the cost of the test?

The current workflow allows for self-pay only, but Invitae plans to enable insurance billing in the future. Stay tuned!

Do I have to order the test?

No. We will match your patient up with an independent provider who will review the health history information your patient provides and place the order, if appropriate.

How do I know if my patients have used the link I gave them?

We will send you (or your representative) an email each time a patient uses one of your custom links. You will also be able to track the status of the orders placed using your links in the Invitae portal.

Invitae's tax ID is 27-1701898.

Invitae's NPI number is 1316206220.

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

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

Yes, we currently accept samples from all US states, including New York. Please visit our test catalog to see which genes and tests are approved or under conditional approval by New York State to be performed at Invitae.

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.

On average, Invitae turnaround times are as follows.

Panel and proactive testing: 10–21 calendar days

STAT panels: 5–12 calendar days

Exome sequencing: approximately 6-8 weeks

Please note that the turnaround time for all tests begins when Invitae receives the sample(s).

The Invitae Breast Cancer STAT Panels offer rapid results in 5–12 calendar days (7 days on average). These panels use the same high quality, peer-reviewed process as Invitae’s other diagnostic tests. Like other Invitae panel tests, they also include the option to re-requisition additional genes if needed within 150 days (temporarily extended from 90 days) of receiving STAT report, at no additional charge.

No, our average turnaround time does not change depending on how many genes are ordered.

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 diagnostic panel report can be found here.

Invitae's reports are only available in English. Our Clinical Consult team is available to address general questions regarding results reports, with providers and patients, in English and Spanish.

Supplemental reports can only be requested after the standard report has been released.

Ordering providers can choose to include a comma-separated list of genes tested on their reports. It will appear on a separate page at the end of the report. This list can be copied and pasted as needed for clinical documentation.

To enable this option:

• Log in to your Invitae account (www.invitae.com/signin).
• In the upper right corner of the screen, click on your name and select Settings.
• Click on the Preferences tab.
• Under Apply these preferences to orders I place, check the box beside Include comma-separated gene list on reports.
• Save your changes.
• The comma-separated list will appear on all future reports for orders you place.

Note: This setting is available only for diagnostic test reports and does not affect proactive or exome reports.

Based on customer feedback, we’ve added the ability to display an alternate banner on diagnostic reports that include only VUS results.

The default banner shows a scale icon and the text “Result: Uncertain.”

If you select the alternate banner, it will show a checkmark and the text “Result: No pathogenic variants identified.”

To enable this option:

Log in to your Invitae account (www.invitae.com/signin).

• In the upper right corner of the screen, click on your name and select Settings.
• Click on the Results tab.
• Under Report settings, toggle the setting on for Display alternate banner for VUS-only diagnostic reports.
• Save your changes.
• The alternate banner will appear on all future reports for orders you place.

Note: This setting is available only for diagnostic test reports and does not affect proactive or exome reports.

We offer complimentary testing for pathogenic and likely pathogenic variants in TP53 to help determine whether or not a variant is present in the germline.

Clients must submit a pedigree so that we can determine which family members may qualify for complimentary testing. As follow up testing to help determine whether the TP53 variant is present in the germline, we also accept DNA from fibroblasts (but cannot accept fibroblasts directly).

Invitae is committed to offering gene panels that are high quality, flexible, customizable, inexpensive, and—importantly—responsive to clinicians’ specific diagnostic questions or indications.

Dividing our tests by clinical area allows us to keep our costs down so that we can offer the lowest possible prices for patients. It’s analogous to what is done in the rest of clinical laboratory testing, where a diagnostic question in one disease area, such as chemistry (electrolytes, liver function, or renal function), might be addressed by a comprehensive metabolic panel (CMP) while a different diagnostic question about red cells, white cells, or platelets would require a complete blood count (CBC). The CMP and CBC are separate tests, performed on different blood samples using different assays, and billed separately.

Invitae’s test catalog shows the exact boundaries of each clinical area. This Clinical areas flyer also gives a broad overview. In short, all of hereditary cancer is its own clinical area (not including hematologic neoplasias), as is cardiology and neurology (not including epilepsy), as is metabolic disorders and newborn screening, as is porphyrias, as is pediatric genetics (including epilepsy), as is hematology (including hematologic neoplasias). Please see the test catalog for details.

We have made every effort to use good clinical judgment when deciding which genes to assign to which clinical area. In addition, a good number of genes have been assigned to more than one area when variants in those genes are relevant to more than one area. For example, many genes including GAA are included in both the neuromuscular disorders clinical area and the metabolic and newborn screening confirmation clinical area.

Nearly all test requisitions we receive fall into a single clinical area. We recognize, however, that it is possible for a single diagnostic question to require a panel that includes genes from more than one clinical area. We encourage clinicians who encounter such a circumstance to contact Client Services. We intend to constantly improve our clinical area definitions and boundaries and believe that client feedback will be key to this process.

Invitae’s pricing structure is designed to support flexibility and the ability to customize orders, while keeping prices low. Our prices for panel tests are listed “per clinical area,” which means that a clinician can select a pre-curated test, combine multiple tests, or customize their own test for each patient—including re-requisition—for the listed price as long as all genes ordered fall within a single clinical area.

Orders that include genes in two different clinical areas will require two sample tubes and will result in two reports generated by two different teams of clinical experts. Please be aware that your order will also represent two billable events, one for each clinical area.

Please view our online test catalog or clinical areas flyer to see the clinical areas. Note that all genes on our pre-curated panels—including their preliminary-evidence and add-on genes—fall within a single clinical area.

The Invitae proactive health tests provide healthy individuals with the opportunity to learn more about their potential risks for certain genetic conditions. This type of testing is designed to provide results in a medically responsible way in collaboration with an individual’s healthcare provider, supporting proactive healthcare management.

The program includes the Invitae Genetic Health Screen, a broad test that covers a range of health conditions including cancer, cardiovascular disease, and other important health risks. Invitae also offers two additional panels focused on specific categories of conditions—the Invitae Cancer Screen and the Invitae Cardio Screen. Learn more on our proactive health test catalog page.

The Invitae proactive health tests analyze over 145 genes associated with various inherited cancers, cardiovascular conditions, and several other inherited disorders that could affect an individual’s health. The Cancer Screen tests more than 60 genes. The Cardio Screen tests more than 75 genes. The Genetic Health Screen tests for all conditions included in the cancer and cardio screens, as well as additional actionable medical conditions.

Learn more or click here to see the full list of genes and conditions covered.

Generally, genetic testing has been primarily offered to individuals with known health concerns in a medical setting. Usually, individuals requiring such diagnostic testing have symptoms suggestive of a genetic disorder or strong family history of certain inherited conditions. However, due to the growth of genetic knowledge and improvements in DNA sequencing technology, genetic testing is now also available to individuals seeking information before the onset of any potential clinical symptoms.

While the Invitae proactive health tests offer the same clinical quality as a diagnostic test, these panels are available to healthy adults who wish to learn more about their genetic risks for a number of serious inherited disorders.

Trying to understand whether diagnostic or proactive testing is right for your patient? We have this tool to help.

This test is for healthy individuals without a personal or strong family history of the conditions tested, and so Invitae will only report genetic variants when there is high confidence that they may significantly increase the risk of developing a disease. In these cases, Invitae classifies these variants as “pathogenic” or “likely pathogenic.” We may also report increased risk alleles in our reports.

Genetic changes with an uncertain clinical impact, called a variant of uncertain significance (VUS), are not reported, as these changes are not medically actionable. Over time, if the scientific and medical community identifies new evidence about how likely a particular VUS is to cause disease, a variant may change from VUS to likely pathogenic or pathogenic. If a VUS in a sample is reclassified to likely pathogenic or pathogenic, Invitae will notify the clinician and issue an updated report.

Discovering that an individual carries a pathogenic or likely pathogenic change in one of the genes on this panel indicates that he or she has a significantly elevated risk for the associated condition. However, a positive result does not mean that the individual will develop the disorder.

Receiving a negative result also provides important information. This result indicates that an individual has reduced risk for developing these conditions due to a genetic basis according to the genetic information revealed by testing these genes. However, it does not eliminate his or her risk, because other potential causes, such as an individual’s family health history, different genes or non-genetic factors such as diet or lifestyle, also affect personal risk and health outcomes.

If your patient receives a positive test result, we offer family variant testing at no additional charge to eligible family members. Unlike our diagnostic panels, we do not offer re-requisitions or panel customization with our proactive health tests.

Invitae strives to offer genetic testing in a medically responsible way and can provide genetic counseling services to both ordering clinicians and individuals undergoing testing. Our highly-trained, board-certified genetic counselors can answer clinician questions throughout the process, as well as provide post-test genetic counseling to patients.*

The ordering healthcare provider can assist in referring patients for genetic counseling services with Invitae as needed. Please see our genetic counseling resources page for more information.

*Post-test genetic counseling services are only available in the US and Canada.

Yes. When a patient tests positive through one of Invitae's diagnostic or proactive panel tests, family variant testing is available to eligible family members. Our family variant testing reports on the variant(s) that was identified in the original family member, as well as any other pathogenic variant(s) found in the full gene. Visit our family follow-up testing page to learn more.

Please refer to our flexible follow-up testing page to learn how to order family variant testing.

Pathogenic (P), likely pathogenic (LP), and pathogenic low penetrance (PLP) results are eligible for family variant testing. This includes increased risk alleles.

Variants of uncertain significance (VUS), likely benign (LB), and benign (B) results are not eligible.

Note: This policy has been temporarily extended to 150 days (from 90 days).

Orders must be submitted within 150 days of the original patient's test report date. In addition, samples for family variant testing must be received within 160 days (temporarily extended from 100 days) of the original patient's test report date.

Family variant testing is available at full price after 150 days. Please consult our billing page for the latest information.

Note: This policy has been temporarily extended from 90 days to 150 days.

If the original patient testing was performed by a lab other than Invitae, the cost for family variant testing is our standard price. Please consult our billing page for the latest information.

Yes, family members of patients who utilize the patient assistance program are eligible for family variant testing at no additional cost.

No. The Invitae Exome sequencing is not eligible for family variant testing at no additional cost.

No. Our re-requisition policy has not changed. Please refer to our re-requisition information page for the policy.

Note that re-requisition is based on a standard Invitae test. Family members tested under Invitae's family variant testing program at no additional charge are not eligible for re-requisitions at no additional charge.

Yes, if the original patient has both a pathogenic variant and VUSes, we will offer family variant testing for both at no additional charge.

Saliva is the easiest specimen for patients to provide from home and enables results just as accurate as blood (saliva and assisted saliva kits are available). However, if required, Invitae can arrange a blood draw for patients in the US or Canada at no additional charge. If placing your order online, simply request a blood draw during the ordering process. Otherwise, please contact our Client Services team to learn more or to schedule a blood draw appointment.