What is a Carrier Screening Panel?

Family planning tests allow healthcare providers the ability to offer tests that are specific to conditions that are currently recommended by the following professional medical societies: American College of Medical Genetics and Genomics (ACMG) American College of Obstetrics and Gynecology (ACOG). Each organization recommends screening the general population or specific ethnic groups for certain conditions, based on carrier frequencies, incidence rates, and other criteria.

Should you be tested?

I have no family history of these conditions, should I still be tested?

Yes, women considering pregnancy or who are currently pregnant could carry these common genetic conditions on to their unborn child. These tests are recommended by ACOG and ACMG.

How do I get tested?

This is a simple blood test that your physician can offer to you. For more information please call 844.531.2100.

Cystic Fibrosis (CF)

Cystic Fibrosis is the most common fatal genetic disease in North America. It affects the lungs most critically, causing the body to produce abnormally thick mucus that can lead to life-threatening lung infections, digestion problems, diarrhea, poor growth and infertility. The average life span for individuals with CF is 37 years.

  • 1 in 30 individuals in the US are carriers for the CF gene
  • There is a 25% chance of an affected infant if both parents are carriers

Fragile X Syndrome

Fragile X Syndrome has a spectrum of outcomes ranging from learning disabilities to severe mental retardation and autism. Symptoms of Fragile X Syndrome include intellectual disabilities, sensory disorders, connective tissue problems, anxiety, ADD, ADHD and Autistic tendencies and characteristics.

  • One in 257 women are carriers and this rate rises to 1 in 86 if there is a family history of mental retardation.
  • One million people in the US have, or are at risk for developing, a Fragile X-associated disorder

Spinal Muscular Atrophy

A severe and often fatal genetic disorder, Spinal Muscular Atrophy is the most common inherited cause of infant death in children under two years of age. SMA affects the muscles needed for many essential functions such as breathing, eating and movement. Individuals with SMA become progressively weaker with respiratory failure. There is currently no treatment for SMA.

  • 1 in 40 to 50 individuals in the US are carriers for the SMA gene
  • One in every 6,000 babies born have SMA

Ask your doctor about genetic carrier screening today to plan for your future

What a negative result means:

  • You are much less likely to have a child with CF, SMA or Fragile X Syndrome. 
  • You are much less likely to pass a non-working gene to your child. 
  • Your remaining risk of being a carrier is much less and will be provided on your report. 
  • A negative test does not guarantee that you are not a carrier. 
  • None of the common CF, SMA and Fragile X gene mutations were found in your sample. 

     

If your testing shows you are a carrier:

  • Genetic counseling may be indicated for you and your partner. Carrier screening should be considered for your partner. 
  • Other family members may consider carrier screening.