CF & SMA Carrier
Screen if you carry a gene variant for cystic fibrosis and spinal muscular atrophy
CF & SMA Carrier is a carrier screening test that provides a closer look at specific gene variants associated with recessive hereditary disorders. It specifically identifies if the mother carries gene variants for cystic fibrosis and spinal muscular atrophy that she can also pass to her baby.
What is carrier screening?
Carrier screening is a genetic test that identifies whether a person carries a gene variant for a recessive hereditary disorder. Carriers usually don’t show symptoms but can pass the gene variant to their children. Many people are unaware they carry a recessive gene until they have a child with the disorder. On average, everyone carries about five or more recessive genes that can cause genetic diseases. If both parents are carriers for the same condition, there is a 25% chance their child could inherit the disorder.
CF & SMA Carrier is only available as an add-on to your NIPT by GenePlanet test*.
*Available for all packages except Premium.
Who is it for?
Who is it for?
CF & SMA Carrier is suitable for all pregnant women who want to know if they are carriers for any of the tested gene variants included in the panel.
What is cystic fibrosis?
Cystic fibrosis (CF) is one of the most common inherited disorders of children and young adults. It impacts the respiratory, digestive, and reproductive systems and tends to get worse over time. CF is caused by pathogenic variants in the CFTR gene, which disrupts the movement of salt and water in cells. This leads to thick, sticky mucus building up in organs like the lungs and digestive system, making it difficult to breathe and digest food. While some individuals have mild symptoms, severe cases can be life-threatening in childhood. Today, treatments allow people with CF to live an average of 50 years.
Around 1 in 25 people of Caucasian descent are carriers of CF. This frequency varies by ethnicity.
What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic disease that affects the nerves controlling voluntary movement. It is caused by pathogenic changes in the SMN1 gene, which disrupts nerve signals to muscles, leading to muscle weakness and tissue loss. This makes it difficult to move, walk, breathe, and swallow. The most common form affects infants and can be fatal by age 2-4, though some forms appear later, allowing survival into adulthood. While there is no cure, new treatments may delay or reduce symptom severity.
Around 1 in 40 people of Caucasian descent are carriers of SMA. This frequency varies by ethnicity.
How does the test work?
CF & SMA Carrier is performed from the same blood sample as the regular NIPT by GenePlanet test.
It can be done from week 10 of pregnancy.
It is available for singleton, twin and IVF pregnancies (it is not available for donor egg pregnancies).
You will receive a separate report for the CF & SMA Carrier analysis. The report will indicate if you are a carrier of the tested gene variants associated with CF and SMA or not.
