Carrier Screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done
before or during pregnancy, it allows you to assess your chances of having a child with a genetic disorder.
Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a
25% risk of having an affected off spring as a consequence.
For a person to get AR disorder, two genes one inherited from father and one from mother is required.If a person has only one gene
for a disorder, he or she is known as a carrier. Carriers often do not know that they have a gene for a disorder. They usually do not
have symptoms or have only mild symptoms.
chevron_rightEither partner is affected by a hereditary disorder.
chevron_rightHistory of a genetic disorder in the family.
chevron_rightHistory of multiple pregnancy losses.
chevron_rightA couple from an ethnic group with a high carrier rate of certain genetic disorders.
chevron_rightSome people decide to have carrier screening before having children.Getting tested.
Before pregnancy gives you a greater range of options and more time to make decisions
chevron_rightCarrier Exome is a novel, complete approach to determine carrier status for recessive disorders in prospective parents.
chevron_rightThis comprehensive test is designed to detect rare, family or sub-population specific variants that could have a deleterious effect in offspring.
chevron_rightThis test is intended for prospective parents who are interested in the most comprehensive review of their genetic background to better understand their risk of having children with rare autosomal recessive disorders.
All women who are thinking about getting pregnant or who are already pregnant are offered carrier screening for cystic fibrosis,
haemoglobinopathies Spinal muscular atrophy, Fragile X syndrome , Tay-Sachs disease, Canavan disease, Familial dysautonomia,
Alpha-thalassemia, Beta-thalassemia, & Sickle cell disease.
There are two approaches to carrier screening for additional disorders.
chevron_rightExpanded carrier screening
In targeted carrier screening, you are tested for disorders based on your ethnicity or family history
In expanded carrier screening, many disorders are screened using a single sample.
chevron_rightWith our Genetic Counselor, you will get to know the detailed summary of any potential genetic conditions for which you may be a carrier.
chevron_rightIf one of the partners tests positive as carriers, you can inform the rest of your family, too. Family members can plan preconception carrier screening in the future by taking tests of their own.
chevron_rightIf only one parent is a carrier, then the child has a 25% risk of being a carrier for that disorder and a 0% chance of having the disease.
If both you and your partner are carriers of the same gene mutation then
chevron_rightYour child has a 25% chance of inheriting one affected gene from each of you and being born with the disease.
chevron_rightHas a 50% chance of being a carrier just like the parent who is a carrier.
chevron_rightHas a 25% chance of not being a carrier and not having the disorder.
chevron_rightThis risk remains the same for each pregnancy.
chevron_rightIf you choose to be screened, a blood, saliva or buccal sample which is sent to the lab where your DNA is examined.
chevron_rightCarrier screening involves testing a sample of blood, saliva, or tissue from the inside of the cheek.
chevron_rightTest results can be negative (you do not have the gene) or positive (you do have the gene). Typically, the partner who is most likely to be a carrier is tested first.
chevron_rightIf test results show that the first partner is not a carrier, then no additional testing is needed.
chevron_rightIf test results show that the first partner is a carrier, the other partner is tested.
chevron_rightNGS panels are designed to test for all sequence changes. Such sequence variations can pose difficulties for physicians and genetic counselors when trying to convey accurate results to a potential carrier.