DNA Testing For Carrier Screening
Make Informed Decisions With Your Family Planning
Genetic Testing Gives You The Information You Need
When it comes to reasons why getting a DNA test is a good idea, carrier screening is one of the best reasons. When you’re planning on having children, knowing more about the possibilities can help you make more informed choices.
What Is Carrier Screening?
Carrier screening is a type of genetic test that helps to identify whether or not an individual is a carrier for a genetic disease mutation. In other words, This type of DNA test helps couples identify the potential risks for having a child with a specific genetic condition.
It’s important to know that carrier screening can identify recessive genes. These recessive genes can lead to conditions that remain hidden in the genetic code of the family for generations. For a recessive condition to manifest, the infant must inherit one pathogenic variant from each parent. Since the infant must inherit the gene from both parents, it’s possible for recessive variants to be passed along for generations without the disease ever manifesting in the family.
Many of these health conditions are debilitating and require lifelong care or early death. Carrier testing helps the couple make proactive decisions with their family planning.
DNA Testing For Dominant Conditions
There are certain health issues that can manifest with only one pathogenic variant. This means only one parent needs to carry the dominant gene for the disease to occur. These conditions are referred to as autosomal dominant conditions.
When one parent has an autosomal dominant condition, he or she has roughly a 50% chance of passing that condition on to a child. Hereditary breast and ovarian cancer syndrome (HBOC) is an example of a dominant disorder that can be passed down by either parent and can affect a child of either gender.
Why Do Carrier Screening?
When it comes to family planning, carrier screening is recommended by the American College of Obstetricians and Gynecologists (ACOG). It’s understood that some genetic conditions are more common in certain populations. That’s why carrier screening tests are done based upon the individual’s makeup and based upon the clinical relevance as well as the potential population frequency.
At Better To Know, we can have three Carrier Screening Panels:
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General Carrier Screening Panel
This genetic test looks at genetic variants across multiple genetic backgrounds and covers 15 autosomal recessive conditions. ACOG recently came out with recommendations to get a general carrier screen regardless of a person’s genetic heritage. When choosing which conditions to screen for, your doctor may still suggest focusing on conditions most common to you and your partner’s heritage.
Cystic Fibrosis Carrier Screening
This genetic test looks at 26 pathogenic variants, including those recommended by the American College of Medical Genetics (ACMG) and additional variants common in African American and Hispanic populations. This type of screening is recommended for all couples, regardless of genetic heritage, before pregnancy.
Ashkenazi Jewish Carrier Screening
This panel tests for over a hundred variants across 24 autosomal recessive conditions most common in peoples of Ashkenazi Jewish descent. This panel also covers Ashkenazi Jewish specific genetic variants for hereditary breast and ovarian cancer syndrome which is an autosomal dominant condition.
This screening is strongly encouraged when both parents are of Ashkenazi Jewish descent (have at least one Jewish grandparent). In addition to this test, a more comprehensive panel may be considered if one parent is not of Ashkenazi Jewish descent.
All our samples are processed in a top-level, national reference laboratory. Our lab is CLIA certified and COLA accredited. This means we are held to the highest standards for all of our policies and procedures. This is why the medical community trusts our results.
Our team has decades of experience and a strong commitment to accuracy as well as excellence. We are dedicated to giving you the results you need to improve your life.
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