A new genetic test called ReadyGen is making it easier for parents to screen their children for rare disorders treatable with cord blood.
One condition included in the ReadyGen panel? Krabbe, a genetic disease that affects approximately 1 in every 100,000 babies.
What is Krabbe disease?
Our bodies contain many genes that perform a number of functions. Some of these genes are responsible for breaking down fats in the brain and nervous system.
However, in people with Krabbe, a gene that codes for a key enzyme doesn’t function properly. This results in a toxic build-up of fatty substances that damages the protective myelin coating on nerve cells within the brain and central nervous system.
The most common form of Krabbe disease, the infantile form, usually begins before the age of one. Unfortunately, because of the severity of the condition, individuals with this form rarely survive beyond the age of two.
Cord blood can help
When it comes to treatment, there are reasons to be hopeful. While there is no cure for Krabbe, an umbilical cord blood or bone marrow transplant can halt the progression of the disease. However, in order to be effective, treatment needs to be initiated before symptoms arise.
Given that babies with Krabbe appear normal at birth, early screening and detection are critical for ensuring these children have access to life-saving treatment.
New hope for early detection
Newborn screening for certain genetic conditions is mandatory in all states. However, the conditions on each state’s panel vary, and only a handful of states test for Krabbe.
So we decided to partner with Sema4, an industry leader in genetic analysis, to help protect our client families’ children with ReadyGen, their pediatric screening test.
ReadyGen analyzes DNA for conditions that can affect children before the age of ten. Many of these can’t be detected by carrier screenings, standard prenatal tests, or state newborn screenings.* Krabbe is one of the 200+ conditions detected by ReadyGen, just one of the 20+ conditions addressable with newborn stem cells.
Early diagnoses for conditions like Krabbe are key for timely treatment, and ReadyGen requires only a cheek swab — so it’s noninvasive and easy.
Included in every ReadyGen kit is a test that identifies a child’s response or sensitivity to 40+ medications that may be prescribed during childhood. This report is provided to the child’s doctor to help recommend personalized medications in the future.
The best part? Families who order ReadyGen will get both tests for the price of one. If you have a child, or are expecting one, you can learn more about ReadyGen here.
Expecting families now have another reason to consider banking their baby’s cord blood, and those who have already banked have another reason to get excited about the future possibilities. As always, we’ll keep you posted on any stem cell news or developments.
*Worldwide, approximately 1 in 27 children screen positive for a genetic condition on the ReadyGen panel. If your child screens positive, a genetic counselor will contact you to discuss the results of the test and help you navigate next steps. The chance of a positive result varies depending on ethnicity.