Knowledge is Power. Plan ahead with GeneAwareTM
We all have 23 pairs of chromosomes.
One pair of chromosomes determines our sex. The other 22 pairs of chromosomes are non-sex chromosomes and contain the rest of our genetic information. Every person has two copies of each gene in their body. Genes act like our body’s instruction manual. Genes tell our cells what type of cell to be and what to do. Below you will see the illustration of how DNA, genes, and chromosomes relate to each other in the coding of genetic information.
Chromosome
A structure found in most living cells that carry genetic information in the form of genes.
Genes
A long molecule that encodes our genetic information.
DNA
Each chromosome is made up of many genes. Each gene, in turn, is comprised of a region of DNA.
Scientists can study a person’s genes and identify changes in those genes.
Some changes, known as pathogenic variants, are severe and cause genetic disorders. Many of these genetic changes are inherited. For the majority of conditions tested in GeneAware™, both copies of the gene need to have a gene change to cause disease. Therefore, a person who has a gene change in one copy of the gene is a carrier and most likely does not have any symptoms of the disease. Below is an illustration of how a genetic condition can be inherited by the children of “carrier” parents.
When a mother or a father is a carrier, they could pass on the gene change to any of their children. Their children would only be at risk of having symptoms of the condition if both parents are carriers of the same condition. If both parents are carriers of the same genetic condition, the chances of passing on the gene change to their children are:
1 in 4 Chance
That a child will inherit the gene change, from mom and dad, and will be affected by the condition.
1 in 2 Chance
That a child will inherit a normal gene from one parent and the gene change from the other parent and will be a carrier of the genetic condition.
1 in 4 Chance
That a child will inherit the normal gene from both mom and dad and will neither be a carrier of the genetic condition nor be affected by the condition.
If a woman is a carrier of an X-linked condition, each later child is at increased risk for this condition (50% risk of inheriting the gene change).
Family planning begins with GeneAware™
| Basic |
| Ashkenazi Jewish |
| ACMG & ACOG |
| Complete |
| Expanded |
Test results typically fall into one of two categories:
Positive (Carrier)
One or more condition-causing gene change(s) was detected in the genes included in GeneAware™. If your partner was not tested, he or she should be tested to determine carrier status.
Negative
No known condition-causing gene change was detected in the genes included in GeneAware™.
Specimen Requirements
SAMPLE TYPE |
REQUIREMENTS |
SHIPPING CONDITIONS |
|---|---|---|
 Blood |
Draw blood in an EDTA (purple-top) tube(s). Send at least 10cc. |
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 7 days. |
 Buccal Swab |
Collect with ORAcollect•Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). We highly recommend the sample be collected by a healthcare professional. |
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
 Saliva |
Saliva should be collected with an Oragene DNA self-collection Kit. |
Ship at ambient temperature in an insulated container by overnight courier. Do not heat or freeze. |
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN copy-number and sequence variant analysis by massively parallel sequencing. Read Research Article
How It Works
Order appropriate testing for your patient.
The patient’s sample is collected.
The patient’s sample is sent to Baylor Genetics.
Results are sent to the physician.
Discuss the results with the patient.