About Genetic Testing

All of us have approximately 20,000 genes in almost every cell in our bodies. These genes are the blueprint or instructions that tell our bodies how to grow and develop. Although most of our genetic instructions are similar, we all carry genetic differences (or variants) that are unique to us!

Sometimes, these variants cause 1 or more genes to stop working or work differently than expected. These genetic variants can result in a genetic disease.

Genetic testing can help:

  • Make or confirm a diagnosis
  • Inform decisions about current or future healthcare
  • Provide a basis for your clinician’s diagnosis and recommendations for treatment and care
  • Support your decisions about family planning for yourself or other family members
  • Give other family members the opportunity to learn their genetic status

If you are interested in genetic testing, please discuss with your healthcare provider which test(s) may be best for you.

What kind of genetic testing does Blueprint Genetics offer? 

Blueprint Genetics is focused on providing genetic testing for inherited diseases in all medical specialties, from cardiology to ophthalmology. You can find all of our tests here. Our tests are meant for healthcare professionals to use as a tool to make or confirm a genetic diagnosis for their patient (or the patient’s family members) when they suspect an inherited disorder.  



How is testing ordered?

Our genetic tests must be ordered by an authorized healthcare professional, such as a physician or genetic counselor (some regional differences apply). If you think genetic testing might be helpful for you, please discuss it with your healthcare provider 

How do I know whether I need testing?

You should discuss possible testing with your healthcare provider, such as your physician, a geneticist, or a genetic counselor; these professionals will help you understand the benefits and limitations of your test before it is ordered. Once the results are available, a genetic counselor can be extremely valuable when it comes to interpreting and understanding the results and planning for next steps. 

If your healthcare provider has questions about genetic testing or how to order a test, they can contact us directly for more information. Once testing is complete, we will send your result directly to the healthcare provider who ordered your test. 

For more information on genetic counseling in the US and Canada, visit the National Society of Genetic Counselors (NSGC) website or the Canadian Association of Genetic Counsellors (CAGC) website. The NSGC’s Find a Genetic Counselor directory also offers access to over 3,300 genetic counselors in both countries.

Sample collection & shipping

How do I provide a DNA sample for the test?

Your healthcare provider will arrange for a blood or saliva sample to be collected. To collect the sample, your healthcare provider can either ask you to visit their clinic or have an at-home sample collection kit delivered directly to your home. They can also request a buccal (inside of cheek) swab kit to be sent directly to your home at no cost to you. The at-home sample collection kit is easy to use and comes with detailed instructions for collecting and shipping the sample back to our laboratory for analysis. If you have any questions or concerns regarding at-home sample collection provided by Blueprint Genetics, please contact our Client Services team for assistance with using the kit. 

How do I use the sample collection kit?

The at-home sample collection kit is easy to use and comes with detailed instructions for collecting and shipping the sample back to our laboratory for analysis. If you have any questions or concerns regarding at-home sample collection provided by Blueprint Genetics, please contact our Client Services team for assistance with using the kit. It is very important that you do NOT eat, drink (even water), smoke, chew gum, or brush your teeth for at least 30 minutes before collecting the sample.  

If you are having blood taken, you do not need to fast before your appointment. You can eat and drink normally beforehand. 

Detailed instructions for sample collection with our OraCollect OCD-100 can be found here. You can also view an instructional YouTube video in English here.

I need a new sample collection kit. How do I get one?

If the sample collection kit you received was damaged or lost, or if the sample collection was not successful, a replacement kit can be requested by your healthcare provider. Please ask that they contact our Client Services team to have a new kit sent to you.  

Once my sample is collected, how do I send it to you?

If your healthcare provider has requested a sample collection kit to be sent directly to your home, it will come with prepaid return shipping labels and instructions for sending it to our laboratory using a FedEx® Clinical Pak envelope. A pick-up for the sample should be scheduled via 

To ensure the safety of the handlers of the package, our kits include 3 layers of protection: the tube the sample is in, a biohazard bag, and the FedEx pouch. 

Please read the packaging instructions carefully and if you have any questions or concerns, contact our Client Services team 

How do I know if my sample has been received?

The healthcare provider who ordered your test will be able to follow the test’s progress with our online ordering portal, Nucleus. If there are any issues with the sample, we will inform your healthcare provider. They will contact you if any additional action is required. 

Sample processing

How is my sample tested?

Once your sample has been received by our laboratory, we make sure that it meets our quality criteria. The DNA is then extracted from the sample and prepared for analysis. We use a technology called next-generation sequencing (NGS) to look at your DNA and see if there are any variants that might cause the symptoms that you or your family member are experiencing.  

Next-generation sequencing creates a huge amount of data, which needs complicated tools to turn it into information that can be interpreted by our molecular geneticists. Once the data has been analyzed, we provide your healthcare provider with a detailed report. Your healthcare provider will then discuss the results with you, help understand the information, and discuss next steps.  

What will happen to my sample and the data after the test is complete?

Unless otherwise agreed or required by local regulations, Blueprint Genetics will automatically keep your DNA sample for 1 year after testing is completed. After this time, the DNA sample is destroyed.  

You can choose to have your DNA stored for a longer period of time, which allows us to use your sample for additional testing if ordered by your healthcare provider. If you want to have your sample stored for longer than 1 year, please indicate this on the Informed Consent Form. This consent form is included in the at-home sample collection kit and can also be found on our website under the “Order form” section here. 

You can also give consent for your sample to be used in research projects to help understand genetic diseases and to help Blueprint Genetics develop and improve testing for genetic diseases.  If you choose to do this, your sample will be stored long-term.  If your sample is used for research projects, all directly identifiable information will be removed. If you do not want to have your sample used for this research, it will not affect the testing we perform in any way. 

The data obtained from testing will be stored long-term unless otherwise instructed. Within our organization, access to your personal data is limited to personnel participating in the diagnostic process, customer service and, in certain situations, technical personnel. When sharing scientific genetic findings, eg, in public variant databases or at scientific conferences, we make sure that any information shared is anonymous. No identifying information is ever revealed. 

For further information, please view our privacy policy here 


How long will it take to receive results?

Most of our test results are ready within 28 days after the sample goes into analysis. Whole Exome Sequencing results are usually ready 8-10 weeks after the sample goes into analysis 

Where can I view my results?

We will send your results directly to your ordering healthcare provider. They will then share them with you and discuss how they affect your future healthcare, and whether the results have significance. 

What kind of results can I expect?

There are 3 possible results: 

  1. A pathogenic or likely pathogenic variant(s): We found a variant that might be related to your symptoms. If you do not currently have symptoms, it might mean that you have an increased chance of developing symptoms in the future. 
  2. Variant of Unknown Significance (VUS): We found a variant, but we do not have enough information at this time to know whether this variant causes symptoms or not. As more and more people have genetic testing, we might learn more about whether this variant is disease-causing or not in the future.  
  3. Negative. We did not find any variants that are known or suspected to cause symptoms at this time. This does NOT mean that you do not have a genetic condition as we do not have the ability to find all genetic variants at this time. Talk to your healthcare provider about whether a different genetic test or more testing in the future would be helpful for you. 

What if my test results are inconclusive?

If your results do not reveal a diagnosis, talk to your healthcare provider about whether they recommend a different test or testing. If you have not seen a geneticist or genetic counselor, talk to your healthcare provider about whether this might be helpful.  


Blueprint Genetics provides clinical genetic diagnostics around the globe to many different healthcare systems with different billing policies.  

Will I need to pay out-of-pocket? / What will my out-of-pocket cost be?

Patients are responsible for copays, coinsurance, and any unmet deductible as determined by their insurance provider. This is part of the benefits investigation process. 

Many patients and families experience economic challenges associated with their medical care. In certain situations, patients may qualify for a reduction in their out-of-pocket expense. Eligibility for our Financial Assistance Program (FAP) is based on household income and household size, with financial assistance for families earning up to 600% of Federal Poverty Guidelines. More information on the Financial Assistance Program can be found here. 

What payment options are available?  

Blueprint Genetics is committed to making genetic testing accessible and affordable to patients. We work with most commercial insurance payers and communicate with you to outline the various options. 

When we receive your healthcare provider’s test order and/or your sample at Blueprint Genetics, we work with you and your healthcare provider to outline the medical billing process. Our team of billing specialists will conduct a benefits investigation and reach out to you about your potential out-of-pocket cost, our Financial Assistance Program, and/or a flexible payment plan. 

Financial Assistance Program 

Blueprint Genetics has a generous Financial Assistance Program that can reduce a patient’s financial responsibility based on income level and household size. The program provides tailored financial solutions based on published federal household income guidelines to any insured or uninsured patient who qualifies financially. More information on the Financial Assistance Program can be found here.


What payment methods can I use?

Bank transfers, credit cards, or checks are all accepted forms of payment. For further information: Read our Billing and Insurance FAQ for more information or contact our Billing team at 1.650.452.9340 ext 1 with any questions about our payment options.   

Last modified: June 13, 2022