The relevant test for women before planning a pregnancy.
The X-Linked Carrier test is a specific genetic test for women who wants to get pregnant. It is a genetic screening panel containing 12 genes associated with recessive diseases associated specifically with the X chromosome. The X-Linked Carrier test reveals if the female is a carrier of these genetic diseases and thereby if she risks passing them on to her children. As boys only have one X chromosome which they inherit from the mother the X-linked disorders are more prominent in boys.
This test is designed specifically for women because only women can carry a mutation on the X chromosome without suffering from the disease. This is because:
Since women have two X-chromosomes, they can be unaffected carriers. If the mother transmits a mutated X-chromosome to a daughter the daughter will have a healthy X-chromosome from the father’s side and will become a carrier like her mother. A girl is unlikely to have a disease-causing mutation on both X chromosomes since the father would have revealed (or suffered from) the disorder if he carries a mutated X-chromosome.
Since boys get a Y-chromosome from the father’s side, they only have the X-chromosome transmitted from the mother and the disorder will appear if the mother transmits the mutated X-chromosome. This is why X-linked disorders are more prominent in boys.
To do the test, a sample of saliva or blood is necessary. To collect the saliva sample, we will send a sample collection kit with instructions for collecting the sample, and shipping instructions for sending the sample to Amplexa Genetics.
You can expect a response no later than four weeks after we have received your sample.