A cystic fibrosis, fragile X syndrome and spinal muscular atrophy screening test.
Our genetic carrier screen gives patients information regarding their chances of having a child with a genetic condition like cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA).
What causes fragile x syndrome?
Greater than 99% of FXS is caused by a specific change (or mutation) which affects the number of times a particular part of the DNA code is repeated in the FMR1 gene. Once the number of repeats is beyond 200, a state known as a “full mutation”, the FMR1 gene is typically switched off and so produces insufficient amounts of a protein that is required for normal brain development, resulting in that individual being affected with FXS.
Is there a fee and is it covered by Medicare?
Unfortunately, Medicare does not cover the fee for carrier screening. When all three tests are requested at the same time the total fee is $350. (Prices may vary. Current as of 1st January, 2017.)
What sample is required for testing?
A small 4ml blood sample, regardless of whether one or all three tests are requested. Alternatively, these tests may be performed using a cheek swab.
How long does testing take?
Results will be available, via your doctor, within 7-10 business days of your sample being received in the laboratory.
What causes CF and SMA?
CF and SMA are both genetic disorders. Everyone has two copies of the different genes involved in CF and SMA as we inherit one copy of each of the genes from each of our parents. Sometimes a change is present in a gene (called a mutation), which prevents the gene from working normally. Having a change in one copy of the gene has no effect on your health as you still have another working copy of the gene. Such people are referred to as ‘carriers’.
Approximately 1 in 25 Caucasians are carriers for CF while approximately 1 in 37 are carriers for SMA. As shown in Figure 1, when both parents are carriers for the same genetic disorder, every time they have a child there is a 1 in 4 (25%) chance that child will inherit two changed copies of the gene and be affected with that genetic disorder. Most parents of children with CF or SMA are unaware that they are carriers for one of these conditions before their child is diagnosed. Usually, there is no known family history of the disease to warn couples of the risk. This test can identify couples who are at increased risk of having a child with either CF or SMA.
How do I order a Gene Access Carrier Screen?
Speak to your doctor about having a Gene Access Screen