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Living with chronic neutropenia? Free genetic testing now available!

There are many genes known to be associated with primary immune deficiencies (PIDs), some of which may cause neutropenia. There are many types of neutropenia. Some types of neutropenia are more serious or may last longer than others.

Free genetic testing is available for people living with congenital, chronic, and/or idiopathic neutropenia to help them learn more about their condition.

This genetic test is only looking at 407 genes known to be associated with PIDs. There may be additional PID genes that are not included in this test, and this test won’t tell you if you are at risk for other conditions.

You may be eligible for this no-cost genetic test if you have had an absolute neutrophil count (ANC) of ≤ 750/μL and neutropenia. Forms of neutropenia can include:

Chronic (congenital or non congenital), or

Idiopathic.

To find out more about genetic testing for neutropenia for you/your child , you can talk with a genetic expert on the phone or video.

Get Started With a 1-on-1 Video or Phone Consultation

With Genome Medical, you can simply schedule your consultation with a certified genetic counselor online and attend from the comfort of your own home

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Applicable to US Residents Only

How It Works

What to Expect from a
Pre-Test Consultation

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Pre-test consultation

Talk with an expert by phone or video for free before your test is ordered. We review your personal and family health history, answer any questions you may have, and confirm that you meet eligibility criteria for PATH4WARD’s sponsored testing program.

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Easy ordering

If you meet the criteria for the PATH4WARD program, then your no-charge Invitae order will be placed by one of our physicians at no cost. We will also coordinate the convenient collection of a DNA sample — usually through a saliva kit that is sent directly to you.

Testing at home

After the saliva testing kit arrives, complete the test kit instructions and provide a saliva sample. Mail the test kit back in the pre-paid envelope. Results will be ready in about 20 days.

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Results consultation

Review your test results with a genetic counselor or medical geneticist free of charge. During this phone or video session, you can discuss the results of your test and their implications. You will receive a written summary and guidance on any actionable insights, including how your physician can integrate the results into your medical care.

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Ongoing care

Our genetic counselors can offer personalized insights, clinical action plans and referrals to specialists as needed.

Why Genetic Testing?

Genetic testing can help you learn more about your disease, possible treatment options and more.

Help you make informed choices about your healthcare.

Get a diagnosis faster — this test looks at 407 genes.

Learn the risk for your family members and inform your family planning.

Find resources, like patient communities and organizations, specific to your condition.

Better understand your options for taking part in clinical research.

Frequently Asked Questions

Why is X4 Pharmaceuticals sponsoring no-cost testing for qualified patients?

X4 is focused on restoring healthy immune system function by developing novel therapeutics for the treatment of rare diseases and recognizes the important role that genetic testing can play in diagnosing a rare immunodeficiency disorder.

Who is Genome Medical?

Genome Medical is the first nationwide specialty medical practice that is focused on genetics. The Genome Medical team features top genetic experts and primary care MDs—all dedicated to helping accelerate the integration of genetics into everyday health care.

Will I be charged for this test and the genetic counseling?

If your child qualifies, there’s no cost for the genetic test and the genetic counseling thanks to X4 Pharmaceuticals’ sponsorship. If you/your child falls outside the eligibility criteria, a genetic counselor can discuss options for obtaining testing for you.

What is a genetic counselor?

A genetic counselor is a genetic expert that can help you understand how genetics impacts your health, whether genetic testing is right for you and what tests might be most appropriate. A genetic counselor is specially trained to understand the complexities of genetic tests and how to interpret an individual’s unique results.

Why should I consult with one of the genetic counselors and what are their qualifications?

Genome Medical’s national network of genetic experts includes both medical geneticists and genetic counselors. Your consultation will most likely be with a genetic counselor who is a medical provider specially trained to understand the complexities of genetic tests and how to interpret you and your child’s unique results. In certain cases, you may also work with a medical geneticist, a physician trained in general medicine, genetic diagnosis and the treatment of patients with genetic disorders.

Genetic counselors start by learning what important health questions you have, assessing the risk for disorders of interest, and then reviewing how genetic testing may help answer them. Their recommendations are tailored to address the issues that are most important to you. If you have questions about you and your child’s results, genetic counselors are there to explain what it means and work with you to understand best next steps and develop a care plan.

What is genetic testing?

To learn about DNA, it helps to start with our genes. We inherit our genes from our parents. Genes contain instructions for all of our traits – such as hair color, eye color, aspects of our health – many things that make us who we are. Although we can’t see them, genes are in the millions of cells throughout our bodies. Genes are found in structures called chromosomes, which are also in our cells.

Genes are made up of chemical building blocks called DNA, abbreviated as “A,” “C,” “T” and “G,” which are spelled in a very specific order to make up a gene. Since genes have instructions for our health, small changes in the way our DNA is spelled in a gene – like a typo – can impact our health. These small changes are called DNA variants.

One type of genetic testing is called DNA sequencing, which studies the DNA within our genes to look for DNA variants. Some DNA variants cause minor traits in us, like the color of our eyes. Other DNA variants can impact our health, such as DNA variants that cause us to have an increased risk for cancer.

Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if you or your child’s health problems have a genetic cause and the health risks can help you and your doctors better understand the prognosis, ensure the appropriate treatments are in place, and learn about family planning implications.

What are the risks of this test? How will my privacy be protected?

You should weigh the risks and the benefits before agreeing to have this test. Risks include:

  • Unexpected information may be uncovered by your genomic test. We will focus on what is useful to you and provides you the best health care. However, situations such as non-paternity, adoption and unexpected risks or diagnoses could be recognized when your information is viewed along with genetic information from other family members.
  • Genetic testing can have emotional effects, especially when a DNA change is found that predicts a serious disease. Genetic counselors are trained to help you understand and process those emotions and your options.
  • Some people are concerned about having their genetic information revealed for others to use against them. Since this test is a clinical test, the results stored in your health record are protected by health information privacy laws, especially the Health Information Portability and Accountability Act (HIPAA).
  • During the consent process, you will have the opportunity to discuss the risks of having your genetic information stored in your health record, the laws that currently prohibit genetic discrimination in certain businesses and their limitations.

What if my physician has a question about the no-cost testing?

Physicians or Providers can go to the Invitae page for information about genetic testing and program eligibility.

I’d like to learn more about genetic testing for primary immunodeficiency.

Please visit IDyourPID for more information about genetic testing regarding primary immunodeficiencies, including neutropenia.

How long will it take to schedule an appointment with a genetic expert?

You can schedule an appointment at your convenience, generally within 1-2 business days.

What should I expect during the pre-test consultation?

During the pre-test consultation, you’ll meet with a Genome Medical board-certified genetic counselor via video or phone to discuss your or your child’s condition. The genetic counselor will answer any questions you may have, collect your or your child’s personal family health history, and confirm that you or your child qualifies for no-cost, sponsored testing.

How should I prepare for the consultation?

Prior to your scheduled consultation, it would be helpful to think about the reasons for pursuing testing, and if you have any concerns regarding your or your child’s family history that you were hoping to address. Please try to find out as much information as you can about your or your child’s family health history before the appointment and share that information with the genetic counselor.

What should I expect during the post-test consultation?

During your post-test consultation you will meet with a Genome Medical board certified genetic counselor via video or phone. Your genetic counselor will:

  • Review your genetic test results and personal and family history
  • Provide a clear understanding of what your results mean for you and your family
  • Develop a clinical action plan for your ongoing care that you can share with your physician
  • Learn about recommended next steps

How long after I give my sample will my results be available?

In most cases, test results will be available in approximately 2-3 weeks.

How do I receive my results report?

Genome Medical will contact you via email or phone once your results are ready. At that time, we encourage you to schedule a post-test consultation to review the test results to better understand what the results mean for you and your family.

What information is included in my summary results report?

A clinical action plan is provided to you once results are complete. The plan is a written summary of the results and guidance on any actionable insights, including how you and your family’s doctor can integrate results into medical care.

What happens if results come back negative?

If results are negative, we will send you a letter, a clinical action plan, detailing your results. A follow-up consultation is available if you have questions regarding any of the test results.

What are the possible results from genetic testing?

A positive result means that a genetic change associated with the disease has been found. Depending on the gene, this result may have a small or large impact on your risk of disease. A negative result means that no genetic change associated with the disease has been found.

A negative result does not completely eliminate the chance that you have an inherited risk for a disease, it simply means that we were not able to identify a genetic risk factor based on the genes tested at this time.

A variant of uncertain significance (VUS) is a genetic change which has uncertain meaning. While some genetic variants are considered harmful, or disease-causing (also called pathogenic), other variations in genes are considered non-harmful and do not cause a genetic condition (also called benign). A VUS means that there is not enough available information regarding a particular variant to know if it is disease-causing or not. Generally, medical management and family risk assessment should not be based on a VUS test result. This type of result cannot independently confirm or provide a diagnosis. While it’s common for a variant to be considered a VUS at the time of a person’s genetic test report, it is possible that more information/evidence regarding the variant may become available over time, as more individual’s have genetic testing including the gene and potentially more research is published. Your genetic counselor can review any additional pertinent details about a VUS on your test report in relation to your medical and family history details.

How should my physician be involved?

We recommend sharing your clinical action plan with your physician so that the physician can manage any recommendations regarding the results. Your physician can also contact Genome Medical if there are any questions regarding the recommendations or results.

From Trusted Experts

No-cost testing

X4 is dedicated to developing treatments that have a clear and profound impact for people with rare diseases, including primary immunodeficiencies such as WHIM syndrome and severe congenital neutropenia.

Expert genetic counseling

Provided by top genetic experts at Genome Medical, dedicated to helping accelerate the integration of genetics into everyday health care.

Clinical-grade testing

Invitae’s industry-leading labs are equipped with best-in-class technology, staffed by some of the world’s top genetics experts, and have delivered over a million results — and counting.

No-cost testing

X4 is dedicated to developing treatments that have a clear and profound impact for people with rare diseases, including primary immunodeficiencies such as WHIM syndrome and severe congenital neutropenia.

Expert genetic counseling

Provided by top genetic experts at Genome Medical, dedicated to helping accelerate the integration of genetics into everyday health care.

Clinical-grade testing

Invitae’s industry-leading labs are equipped with best-in-class technology, staffed by some of the world’s top genetics experts, and have delivered over a million results — and counting.

More Questions? No Problem!

Do you want more clarification before committing to a consultation? We are here to help.

More Questions? No Problem!

Do you want more clarification before committing to a consultation? We are here to help.

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