Protect the health of your future children by knowing your genetic risks today!
Carriers are healthy individuals who carry one or more genetic mutations in one or more of their genes for a genetic disease and depending on the heredity motif can carry these mutations to their children who will get sick of these diseases.
24% of the general population are carriers of a genetic disorder, although utilizing expanded carrier screening (ECS), this number is likely a substantial underestimate.
Having no family history of a genetic disorder does not eliminate your risk. Anyone can be a carrier of a genetic disorder.
80% of children born with a genetic recessive disorder were born to parents who had no family history.
Carrier Screening Testing is designed and developed by leading geneticists for reliable and advanced detection of carriers of genetic disorders for all ethnicities.
The procedure includes a simple blood sampling from your hand. Then your sample is shipped in special packages in certified laboratories. We are looking for changes in mutations in specific genes in your DNA to let you know if your future children have a chance to inherit a specific genetic disease.
It detects thousands of variations in up to 420 autosomal residual and sex-linked genes associated with hundreds of hereditary diseases, including:
- Cystic Fibrosis
- Spinal Muscular Atrophy
- Fragile X Syndrome
- Duchenne Muscular Dystrophy
- Haemophilia
- α, β Thalassaemia
- Sickle cell disease
- Hereditary Mental Hysteria
- Deafness
- Epilepsy
- Hypothyroidism
- Hemochromatosis
- Polycystic Kidney Disease
- > 60 Metabolic Diseases (eg Hypercholesterolemia, Favism, Phenylketonuria, Galactosemia etc.)
See the detailed list of disorders detected here...
Detection rates of >99% of novel & known mutations for most genes screened!
In particular, for ova or sperm donors, it is possible to check if they are carriers of 16 diseases.
See the detailed list of disorders detected for donors here..
Through the Safembryo, free genetic counseling is offered to all those who choose the extended Carrier Screening test before testing and after the results. This will ensure that you have access to specialized services and that your examination and results will be fully understood.
During the sessions, the results will be explained in the context of fertility, family and medical history, making it easy for you to make decisions about your family planning.
Expanded Carrier Screening detects the most medically relevant genetic disorders that can significantly impact the health of an individual. The genetic disorders can be categorized into 3 groups, note genetic disorders can belong to one, two, or all three categories:
- Can be managed early in life and are treatable
(e.g. PKU and Wilson Disease)
- Chronic and require lifelong management
(e.g. Sickle Cell Anemia and Fragile X Syndrome)
- Life-threatening with no curative treatments
(e.g. Cystic Fibrosis and Duchenne Muscular Dystrophy)
Carrier Genetic Screening tests are comprehensive tests that screen for relevant genetic disorders including both the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommended diseases for individuals of reproductive age or who are considering using donors in ART. ACOG recently released two updated Committee Opinions on carrier screening.
Carrier Screening in the Age of Genomic Medicine (#690) stated ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for pre-pregnancy and prenatal carrier screening.
Carrier Screening for Genetic Conditions (#691) states information about carrier screening should be provided to every pregnant woman.
Research has shown that individuals, especially those undergoing fertility care, have used information from carrier screening to make a clinical decision regarding their reproductive health.
It is important to know who is a carrier as there are different genetic patterns of inheritance. Each child inherits a copy of a gene from each parent. Autosomal recessive disorders affect the genes in chromosomes pairs 1 – 22. Sex-related disorders affect the 23rd pair of chromosomes (eg, gender chromosomes), namely chromosome X.
Autosomal Recessive Inheritance: Both Parents Carriers
If both parents are carriers, there is a 25% chance with each pregnancy
for sons or daughters to be affected with the genetic disorder. An example
of an autosomal recessive disorder is Cystic Fibrosis, Spinal Muscular Atrophy, Sickle cell Disease.
X-Linked Inheritance: Female Parent
When a female is a carrier for an X-linked disorder, if she has a
daughter, there is a 50% chance she will be a carrier. If she has a son,
there is a 50% chance he will be affected by the X-linked disorder. An
example of an X-linked disorder is Hemophilia.
Genetic disorders, when counted collectively, affect more individuals than common chromosomal disorders (e.g., Down syndrome) and neural tube injuries (eg Spina Bifida), both of which are undergoing a systemic examination during pregnancy for decades.
- Genetic disorders: 1 in 280 births
- Down Syndrome: 1 in 800 births
- Neural tube damage: 1 in 1,000 births
Our ethnicities can influence the risk to be a carrier since some genetic disorders are more common in certain populations. Most people cannot state their ethnicities correctly. With that in mind, our Carrier Screening tests have been expertly developed to include the most relevant genetic disorders for all ethnic groups.
