Frequently Asked Questions About Genetic Testing
DNA is a sequence of A's, T's, C's and G's organized into coding regions that make up the approximately 20,000 genes which provide instructions for making proteins. These proteins are responsible for growth and development as well as traits such as eye color. Non-coding regions help control how and when genes are used.
Your genome is your complete DNA sequence, including both coding and non-coding regions.
More than 99% of your DNA is identical to everyone else’s. A variant is a change in the DNA code. A variant can be a normal genetic difference that does not cause medical problems, or it can be a harmful variant that causes an abnormality or disease. The purpose of genetic testing is to identify changes in the DNA sequence that are the cause of an affected individual’s condition or that may predispose an individual to develop a condition later in life.
Our DNA is organized into 23 pairs of chromosomes. We have two copies of each gene - one inherited from our mother and one inherited from our father. We will pass one of those copies on to our children. If one copy contains the variant and one does not, we have a 50% chance of passing the variant on to an individual child. If both copies contain the variant, we have a 100% chance of passing the variant on to an individual child.
For most inherited disorders, two copies of a harmful variant are necessary for an individual to exhibit the symptoms. The one “good” copy without the variant is oftentimes sufficient to compensate for the harmful copy with the variant. If your DNA contains one copy of a harmful variant you are considered a carrier - you carry the variant, and may pass the variant on to your children, but you do not exhibit symptoms of the disorder. If your partner is also a carrier for the variant, your individual child has a 25% chance of inheriting the disorder and a 50% chance of being a carrier. For X-linked variants, the chance of your child being a carrier or inheriting the disorder is higher, particularly in boys who have one X chromosome and one Y chromosome.
Whole genome sequencing (WGS) uses the most advanced DNA sequencing technology available. It looks at more than 98% of your DNA. Other types of sequencing look at only a small amount of your DNA, ranging from 0.01% to 1.5%. By looking at more of your DNA it's possible to look at many different types of variants across all of your genes.
Frequently Asked Questions About the Genomic Inform® Test
Genetic testing can identify variants in your DNA that put you at an increased risk for developing diseases later in life such as cancer, heart conditions, clotting conditions, inflammatory bowel diseases, inherited kidney disorders and more. It can also determine your carrier status for rare inherited disorders before you pass a harmful variant on to your child.
Once you request information about the test online, our clinical coordinators will get in touch to walk you through the testing process and answer any questions that you have. They'll send you a saliva collection kit and a test requisition form. Then you'll fill out the test requisition form with your physician, sending it and your saliva sample to us using the prepaid postage. In ~8 weeks, your full clinical report will be ready.
Once your completed test requisition form and saliva sample are received, it takes ~8 weeks to deliver the final clinical report.
Whole genome sequencing is not covered for preventative care. Direct patient payment is required for this test.
The Genomic Inform® test costs $2,819. It is more expensive than many of the direct-to-consumer tests advertised on TV and in social media because it uses whole genome sequencing technology. This advanced sequencing technology looks at >98% of your DNA, while other sequencing technologies look at between <0.01% and 1.5% of your DNA. Having more DNA sequenced results in a more expensive test. However, it also provides significantly more value - enabling detection of more potentially harmful variants in more genes for a significantly more complete analysis.