The Clarity Genetics Essential Panel screens for cystic fibrosis (CF), spinal muscular atrophy, and fragile X syndrome. In addition to the information listed below, you can download the Essential Panel brochure or click on the disease name to learn more.
Cystic Fibrosis (CF) 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.
Spinal muscular atrophy (SMA) is a severe and often fatal genetic disorder and the most common inherited cause of infant death in children under the age of two. SMA affects the muscles needed for many essential functions, like breathing, eating, and movement. Individuals with SMA become progressively weaker (atrophy) and die. There is currently no treatment for SMA.
Fragile X syndrome affects approximately 1 in 4,000 males and 1 in 8,000 females. The majority of males with fragile X syndrome have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. About one third of the females affected with fragile X syndrome have a significant intellectual disability. Others may have more moderate or mild learning difficulties.
Who Should Take It?
• All individuals of child bearing age, regardless of gender
• All individuals with a family history of genetic disorders
• All individuals with partners who are carriers of a genetic disorder
• Those considering in vitro fertilization
• Pregnant women
Why Clarity Genetics?
When testing, our laboratory analyzes all of the coding DNA in a gene to determine if any disease-causing pathogenic variants are present. By sequencing all of the coding DNA in a gene, instead of just a portion, we are able to offer the most accurate genetic testing available, regardless of your ethnicity. The majority of laboratories are only sequencing a portion of the gene, leaving room for error with missed pathogenic variants, especially when testing a variety of ethnicities. By sequencing the entire gene, Clarity Genetics testing eliminates the doubt in a negative result and drastically reduces the residual risk, regardless of ethnicity.
