Knowledge is Power. Plan ahead with GeneAwareTM

Gain the knowledge you need to make empowered family planning decisions.

GeneAware™ is a reproductive carrier screen that analyzes small amounts of your patient’s blood or saliva to reveal a world of medical knowledge that is beneficial for their family. Individuals and couples of reproductive age can have GeneAware™ testing to identify potential risks of having a child with a genetic condition.

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.

DNA

A long molecule that encodes our genetic information.

Gene

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).

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).

Test Codes

60101

Female Complete

60201

Female Ashkenazi Jewish

60301

Female ACMG & ACOG

60401

Female Basic

60106

Male Complete

60206

Male Ashkenazi Jewish

60306

Male ACMG & ACOG

60406

Male Basic

 

GeneAware™ 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™.

Family planning begins with 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.

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.

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.

More questions? Please contact us by calling 1.800.411.4363.

Genetic Counselor
Clinical Director, NGS/Molecular
Sr. Division Director, NGS/Molecular/CGI
Menu