Genomic testing provides the ability to better understand the unique features of your DNA that have the potential to affect your health or the health of your children:
Frequently Asked Questions about Genomic 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.
Your exome is the coding region of your DNA, which makes up about 1.5% of your genome.
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 cause an abnormality. 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 deleterious variant are necessary for an individual to exhibit the symptoms. The one “good” copy without the variant is oftentimes sufficient to compensate for the deleterious copy with the variant. If your DNA contains one copy of a deleterious 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.
Genomic testing can identify variants in your DNA that put you at an increased risk for developing diseases later in life such as cancer, later-onset cardiac syndromes and connective tissue syndromes. It can determine your carrier status for rare inherited disorders as well as identify pharmacogenomic variants that may affect your response to prescribed medications.
Frequently Asked Questions about the Genomic Reveal™ Test
Whole genome sequencing (WGS) looks at the sequence of your entire DNA. This is called your genome. With WGS, it’s possible to look at small sequence changes plus large sequence changes that are often missed by exome and other types of sequencing.
Whole genome sequencing can identify variants in your DNA that put you at an increased risk for developing diseases such as cancer, later-onset cardiac syndromes and connective tissue syndromes. It can determine your carrier status for rare inherited disorders as well as identify pharmacogenomic variants that may affect your response to prescribed medications.
After discussing genetic testing and whole genome sequencing with your physician, your physician will work with you to complete the test requisition form. A blood or saliva sample will be collected from you. Your physician will send the sample and completed forms to Variantyx. Our affiliated sequencing partners will sequence your DNA and securely transmit the data to Variantyx where it will be analyzed and interpreted by our board-certified medical geneticists. Consulting collaboratively with your physician, Variantyx’s medical geneticist will summarize their findings in a signed clinical report which includes any follow up recommendations. The final report will be delivered to your physician who will share it with you.
Physician consent is required for regulatory compliance, but we additionally believe that your physician plays a key role in applying the knowledge learned within the context of your personal medical and family history.
Once a sample and the associated paperwork is received, it takes ~8 weeks to deliver the final clinical report to the ordering physician.
Whole genome sequencing is not covered for preventative care. Direct patient payment is required for this test.
Whole genome sequencing (WGS) is often viewed as the future of clinical diagnostics. However, we're using the significant advantages that WGS provides over current NGS testing methods to provide the most comprehensive picture of your genome.