Company Overview: Invitae

Updated June 3, 2019

This article was scientifically reviewed by YourDNA

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Invitae is rapidly growing genetic information company headquartered in San Francisco. In addition to offering a variety of genetic test options for consumers, the company also seeks to share test results freely, bringing comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people.

What's in this Guide?

Disclaimer: Before You Read

It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.

Genetics is a quickly changing topic.

About Invitae

In 2012, Genomic Health, Inc. established the wholly owned subsidiary of Invitae with the goal of improving the quality of diagnosis, communication and support for millions of patients and their families faced with common and rare genetic conditions. Invitae first began to offer commercial services in 2013.

Invitae has assembled a team of approximately 300 experts in genetics, bioinformatics, engineering, technology, and commercial development, among other disciplines. The company is focused on hereditary cancers but has a long-term goal of aggregating most of the world’s genetic tests into a single service with higher quality, faster turnaround time and lower price than many single-gene tests today.

The company currently provides a single diagnostic test comprising over 200 genes for a variety of genetic disorders associated primarily with cancer, but the test also covers cardiology, hematology, neurology and pediatrics.

Board-certified professionals are led by Chief Medical Officer Dr. Robert Nussbaum, a pioneer in medical genetics. Every Invitae report is reviewed by a team of PhD scientists, medical geneticist lab directors, and genetic counselors.

Invitae utilizes an integrated portfolio of laboratory processes, software tools, and informatics capabilities to process DNA-containing samples, analyze information about patient-specific genetic variation, and generate test reports for clinicians and their patients.

Invitae provides a variety of diagnostic tests with clinical utility in:

  • preimplantation and carrier screening for inherited disorders
  • miscarriage analysis
  • pediatric and developmental disorders
  • neurological disorders
  • cardiovascular disorders
  • metabolic disorders
  • hereditary cancer

Invitae Testing Options and Recommended Tests

Invitae offers a broad and actionable test menu, including:



Arrhythmia and Cardiomyopathy
Cardiomyopathy and Skeletal Muscle Disease
Aortopathy and Connective Tissue Disorders
Familial Hypercholestererolemia
Pulmonary Hypertensions
Congenital Heart Disease


Hereditary Cancer – Dermatology Cancer Syndromes
Pediatric and Rare Disease – Skin Disorders


Boosted Exome – Proband-only
Boosted Exome – Duo
Boosted Exome – Trio


Hereditary Cancer – Bone Marrow Failure Syndromes
Non-Malignant Hematology – Hereditary Hemochromatosis
Non-Malignant Hematology – Hereditary Thrombophilia

Hereditary Cancer

Multi-Cancer Panels
Common Hereditary Cancers
Breast Cancer STAT Panel
BRCA1 and BRCA2 STAT Panel
Cancer Panels by Organ System
Pediatric Oncology
Individual Hereditary Cancer Conditions


Primary Immunodeficiency
Antibody Deficiencies
Autoinflammatory Syndromes
Combined T/B Cell Deficiencies
Disorders of Intrinsic and Innate Immunity
Immune Dysregulation
Phagocytic Defects
Well-Defined Syndromes

Metabolic Disorders and Newborn Screening

Primary Hyperoxalurias
Metabolic Newborn Screening and Immunology
Exome Options


Pediatric and Rare Disease – Ciliopathies


Movement Disorders
Pediatric and Rare Disease


  • Eye Disorders
  • Invitae Aniridia Test
  • Invitae Axenfeld-Rieger Panel
  • Invitae Bardet-Biedl Syndrome Panel
  • Invitae CHARGE Syndrome Test
  • Invitae Choroideremia Test
  • Invitae Congenital Cataracts Panel
  • Invitae Duane-Radial Ray Syndrome Test
  • Invitae Early-Onset Glaucoma Panel
  • Invitae Leber Congenital Amaurosis Panel
  • Invitae Microphthalmia/Anophthalmia Disorders Panel
  • Invitae Oculo-Facio-Cardio-Dental Syndrome Test
  • Invitae Retinoblastoma Test
  • Invitae Senior-Loken Syndrome Panel

Pediatric Genetics

Pediatric and Rare Disease
Hereditary Cancer
Pediatric Developmental Disorders

Reproductive Health

Carrier Screening

Core Carrier Screen (analyzes 3 genes)
Broad Carrier Screen (analyzes 46 genes)
Comprehensive Carrier Screen (analyzes 288 genes)

Non-Invasive Prenatal Screening (NIPS)

High-quality, affordable NIPS can detect fetal chromosomal abnormalities as early as 10 weeks, for all pregnant patients. Includes screening for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).

Add-on tests can also Assess clinically significant microdeletions, determine the risk of sex chromosome disorders, and predict fetal sex—all in one test.

Pregnancy Loss

Helps test subjects uncover the cause of recurrent miscarriage.

Approximately one in five clinically recognized pregnancies ends in miscarriage. Of first-trimester pregnancy losses, more than 50% are due to a fetal chromosomal abnormality.

Invitae testing can help determine the cause of second and third-trimester loss to give patients answers to their hardest question: Why. Chromosomal microarray analysis (CMA) for pregnancy loss is DNA-based and delivers results in more than 92.4%1 of cases in as soon as 10-12 days, on average.

Prenatal Diagnosis

Prenatal diagnostic testing for chromosomal abnormalities.

Prenatal microarray analysis is recommended by the American College of Obstetrics and Gynecology (ACOG) in lieu of karyotyping for all women undergoing prenatal diagnosis, regardless of maternal age.

Preimplementation Diagnostic Testing

Preimplantation genetic testing (PGT) increases the likelihood of In-vitro Fertilization success by helping select the best embryos. This test identifies embryos with the correct number of chromosomes to improve the chances of a successful pregnancy.

When an embryo has extra or missing chromosomes, that’s a condition known as aneuploidy. Most aneuploid embryos do not result in a healthy live birth.

Many lead to spontaneous miscarriage, some fail to implant in the uterus, and some result in a baby with birth defects, intellectual disability, or other health problems.

Proactive Genetic Testing

Proactive Genetic Testing

A wide offering of genetic tests for adults who want to understand their DNA and focus on prevention. Best suited for adults without a strong personal or family history of disease an opportunity to learn about how their genes could potentially impact their health.

Three testing options analyze up to 147 genes that are well-established indicators of a significantly increased risk of developing hereditary cancers, cardiovascular conditions, and other medically important disorders.

To see a full list of all genes tested, go here.

Re-requisition Testing

With re-requisition testing, if you don’t find the answers you’re looking for with your first panel test, you may order more genes within the original clinical area within 90 days for no additional charge. No new specimen is required.

Family Variant Testing

Invitae offers family follow-up testing for probands tested at Invitae who are found to have a pathogenic/likely pathogenic variant or a variant of uncertain significance (VUS).

For patients who undergo diagnostic or proactive testing and are found to have a pathogenic or likely pathogenic variant, their blood relatives can have up to a 50% risk of having the same variant.

What does Invitae's Genetic Testing Cost?

The cost for Invitae’s genetic testing will vary according to the tests that are selected. Invitae offers several flexible billing options in an effort to make sure cost is no longer a barrier for patients to access their genetic information.

To view complete details on billing and what options are available, see Invitae’s billing webpage for details.

If you have any questions about costs or billing, contact Invitae’s Client Services team to assist you.

Is Invitae's Genetic Testing Covered by Insurance?

It varies by provider but in most cases, health insurance plans will cover the costs of genetic testing, as long as it has been recommended by a person’s doctor.

Since different insurance providers have different policies about what is covered, it’s advisable to contact an insurance company prior to testing to ask about coverage.

There are instances where some people may choose to not have their insurance to pay for testing. Privacy may be an issue and depending on the results of a test, it could be problematic and impact a person’s insurance coverage.

Privacy laws have gotten more stringent, but if this is a concern, it’s best to check on the privacy protection laws for your particular state before contacting your insurance company about coverage.

Is Invitae accredited by the College of American Pathologists (CAP)?

Invitae received accreditation form the College of American Pathologists in December 2014. Recertification and onsite inspections take place every two years to ensure Invitae is maintaining compliance with program requirements.

CAP accreditation is awarded to facilities that meet the highest standards of quality in laboratory services. The U.S. government recognizes the CAP Laboratory Accreditation Program, which began in the early 1960s, as being equal to or more stringent than the government’s own inspection program.

CAP accredits the entire spectrum of laboratory test disciplines with the most scientifically rigorous customized checklist requirements.

As part of the accreditation process, inspectors examine the laboratory’s records and quality control of procedures as well as conducting an onsite inspection.

CAP inspectors also examine laboratory staff qualifications, equipment, facilities, safety program and records, and overall management. In addition, labs must be appropriately licensed to perform testing when required by law.

Invitae’s CAP LAP number is 8770489 and the AU-ID is 1703789. A copy of the company’s license can be downloaded on their licensing information page.

In addition, Invitae is also Clinical Laboratory Improvement Amendments (CLIA) certified.

The CLIA ID number is 05D2040778. A copy of the company’s license can be downloaded on their licensing information page as well.

Invitae’s Patient Insights Network

Invitae has developed a Patient Insights Network (PIN), an online platform where individuals can take surveys, upload medical records, track outcomes, and learn about DNA research and clinical trials.

PIN data is de-identified, making it possible to share the information with researchers and biopharmaceutical companies working to help find new and better treatments for disease. Data is also shared with patients, giving PIN participants the chance to learn how others are managing similar health challenges.

Patients opt in and decide what to share and when they want to be contacted. After taking a survey, you can see responses and learn how others manage similar health challenges. There is no cost to join the PIN.

Sharing medical data and experience amplies the voice of patients to optimize the search for better treatments.

With patient participation, Invitae can:

  • Study why individuals have different symptoms
  • Learn which treatments work and which don't
  • Help medical professionals improve how they treat affected individuals with the condition
  • Speed up research by collecting information that scientists can use
  • Inform people living with health conditions (or their families) when they may be eligible for research studies or clinical trials

What Does an Invitae Account let you do?

An Invitae account lets customers do several things, including:

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

Invitae Specimen and Shipping Requirements

Specimen Requirements

Invitae offers free kits for sample collection. You can Request a Kit here.

For complete details on specimen requirements go here.

Shipping Requirements

In the US and Canada, Invitae’s kits come with a shipping label. Patients can also send the sample in a crush-proof container via FedEx Priority Overnight to the following address:

Attn: Client Services
Invitae Corporation
1400 16th Street
San Francisco, CA 94103

Please contact Client Services for Invitae’s FedEx account number.

If you choose to use your own shipping method, please send the tracking number to [email protected].

Invitae accepts deliveries Monday through Friday, excluding holidays.

Invitae’s Privacy Policy

Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people.

From day one, patients owning and controlling their genetic data has been one of the company’s core principles.

Invitae makes every effort to ensure that patients are in control of what information they want to learn or share. Sharing genetic and other information that has been stripped of personal identifiers is a powerful tool for clinical medicine and science.

This kind of information in known as de-identified information. It can help accelerate understanding of genetic conditions, improve genetic testing, speed development of new treatments, and advance research that may one day lead to cures for a variety of diseases.

As a healthcare company, Invitae is subject to and fully complies with the privacy and security requirements under HIPAA.

To view Invitae’s full privacy practices, you can access the following documents:



Additional information about patient data and rights can be found on the following forms:

Patient informed consent (panel testing)
Patient informed consent (carrier screening)
Patient informed consent (exome testing)
Patient informed consent (proactive testing)
Patient informed consent (preimplantation genetic testing)

For more information regarding privacy, you can also contact Invitae at [email protected].

Advantages of testing with Invitae

Patients can realize a number of benefits when they have genetic testing done through Invitae:

  • There is a broad and actionable test menu that allows people to customize their tests based on their own personal needs for a wide variety of situations and possible conditions.
  • People can select curated panels, design their own or order an exome test creating a wide choice of options.
  • The company also offers clinical support when needed. Invitae's board-certified genetic counselors are available to discuss test options and results. Genetic counselors can be reached by calling 800-436-3037, Monday through Friday, 5 am to 5 pm, Pacific time.
  • For healthcare professionals who would like to refer a patient for genetics services, Invitae offers the Genetics Provider Network (GPN).
  • The GPN is a network of genetics professionals, including genetic counselors, geneticists, and genetic nurses, in the US and Canada. These genetics providers cover a broad range of genetics specialties and offer both face-to-face and remote consultations for patients.
  • To demonstrate that Invitae's next-generation sequencing (NGS) analysis provides high-quality results, Invitae has validated those analytic results and clinical interpretations through several studies.
  • Quality testing backed by peer-reviewed studies showing 100% analytic sensitivity and specificity compared to historical hereditary cancer genetic testing laboratories.
  • To demonstrate the value of multi-gene panels in hereditary cancer risk assessment, Invitae has collaborated with several preeminent research hospitals on studies comparing the clinical actionability of multi-gene panels to traditional single-gene testing.
  • The company makes ongoing contributions to both ClinVar and patient registries. Clinvitae is a unified database of clinically observed genetic variants aggregated from public sources. Clinvitae enables patients to search for variants across all these sources simultaneously using a fast and intuitive search engine.
  • 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.
  • Invitae meets and exceeds standards for accreditation at national and state levels, including College of American Pathologists (CAP) accreditation and Clinical Laboratory Improvement Amendments (CLIA) certification.

Invitae and the Importance of Data Sharing

One of Invitae’s core principles is the sharing of genetic data and test results to help build a repository of information that can be shared among everyone. This speeds the possibility of finding cures for various genetic-based conditions.

For some time, Myriad Genetics held the patent and analyzed DNA for mutations in the BRCA1 and BRCA2 genes (cancer) and kept results a closely guarded secret.

Even though DNA data can be the key to understanding or even successfully treating cancer, that potentially life-saving information is not publicly available.

Myriad claims that releasing it creates a privacy risk. Other data is buried in the databases of testing companies and medical center labs, simply because sharing it is technically difficult and expensive.

Many genetic scientists believe that the sequestering of this information for proprietary purposes is wrong.

Myriad built its own database, and it is the biggest and the best, because for about 15 years, the company had a patent on the BRCA genes tests, preventing any other US lab from offering the test. Over the years, the company built up a massive reservoir of information, millions of data points, linking different mutations to their consequences for cancer risk—all of it was kept private.

The American Civil Liberties Union and the Public Patent Foundation filed a lawsuit in 2009 claiming that Myriad’s patent violated the law. In 2013, the Supreme Court agreed, breaking the company’s legal monopoly.

The argument was that if other companies or nonprofit labs could also look up gene mutations in that database, it would help all patients—not just paying Myriad customers—get better answers and more information.

After the ruling, other companies started offering the test. But Myriad’s database, the single best source of data about the connection between BRCA mutations and breast cancer, remains a trade secret to this day causing an ethical outrage in many quarters.

This is because genetic medicine is all about numbers. The more examples you have, the better the interpretations get.

Because they couldn’t get access to Myriad’s database, many other genetic testing labs, including Ambry Genetics, GeneDx, and Invitae, as well as large academic medical center labs pledged to share their data.

Before sharing, they remove personally identifying information and submit the results to the public ClinVar database so that all test providers, including competitors, can access the same information.

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