WHAT IS Adventia CARRIER SCREENING?
Adventia is a new genetic test for carrier screening to determine whether a phenotypically healthy person is a carrier of a genetic disease. The genetic insight provided by Adventia can inform, guide and empower people on their reproductive choices and minimize the risk of people who are carriers transmitting a genetic disease to their children. Adventia offers a choice of different panels and testing for up to 229 moderate to severe autosomal recessive and X-linked genetic diseases.
Six individual panels for high frequency and severe genetic diseases: A-Thalassemia, B-Haemoglobinopathies, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy.
Single panel that detects 19 genetic diseases recommended by international genetic organizations like ACMG and ACOG* due to their high incidence and severity. The Guidelines Based panel includes all diseases tested in the Focus panels, and other diseases including Phenylketonuria, Fanconi Anemia Group C and Tay-Sachs disease.
Single panel for 229 diseases that have moderate to severe, well-defined phenotype and high cumulative frequency. The Comprehensive panel includes all diseases of the Guidelines Based panel, and covers a wide range of metabolic, cardiovascular, haematological, muscular, immunological, neurological and pulmonary diseases amongst others.
WHY RECOMMEND Adventia Carrier Screening?
Adventia tests for autosomal recessive and X-linked diseases which:
- have moderate to severe phenotype
- are high in carrier frequency
- can compromise quality of life
- may be manageable through early interventions
*American College of Medical Genetics and Genomics, American College of Obstetrics and Gynecologists
WHO IS Adventia CARRIER SCREENING FOR?
WHY CHOOSE Adventia CARRIER SCREENING?
Adventia was specifically designed to be a beneficial and comprehensive test for everyone, regardless of ethnic background and family history. It is based on a novel and powerful technology and can provide meaningful results in a short turn-around time to help you minimize your risk of transmitting a genetic disease to your children. The diseases tested by Adventia:
- have moderate to severe phenotype (characteristics)
- are high in carrier frequency
- can severely compromise quality of life
- may be manageable through early interventions
WHAT DOES Adventia TEST FOR?
Adventia screens for autosomal recessive and X-linked diseases. Carriers of recessive diseases have one healthy gene and one gene with the mutation.
UNAFFECTED CARRIER AFFECTED
Autosomal Recessive Diseases
Autosomal Recessive Diseases affect chromosome pairs 1 to 22. If both parents are carriers, they have:
- 1 in 4 chance of having an unaffected child
- 1 in 2 chance of having a child who is also a carrier, who has inherited the mutation from only one parent
- 1 in 4 chance of having an affected child, who has inherited mutations from both parents.
X-Linked Diseases affect the X chromosome, found on the 23rd chromosome pair which determines gender.
- 1 in 2 chance of having a carrier daughter. Female carriers may or may not exhibit disease characteristics due to X-inactivation*
- 1 in 2 chance of having an affected son. Males who have inherited the mutation are always affected, as they only have one X chromosome.
*X-inactivation is the process of randomly ‘silencing’ one of the two X chromosomes in females to avoid having double the ‘dosage’ of protein-coding genes.
WHEN SHOULD I GET TESTED?
Adventia carrier screening can be performed by any individual or couple when they wish to learn more about their genetic information to minimize the risk of transmitting a genetic disease to their children. Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.
WHY GET TESTED?
Anyone can carry certain mutations (genetic changes) in their body. Some mutations may have no effect on our health and development, while others can cause a genetic disease. When an individual has a mutation in one of their genes, but the mutation is not powerful enough to be expressed, that individual is a carrier of a recessive disease. Two carriers of the same recessive disease can have a child who is affected, if the child inherits the mutation from both of them.
As carriers are asymptomatic, they are unaware of their carrier status and the risk of passing a mutation to their children. In fact, many mutations for recessive diseases could be inherited via multiple generations without clinical manifestation. Unless you have been tested, it is impossible to know whether you are a carrier of a recessive disease.
Thus, knowing your carrier status can provide information regarding your reproductive options and minimize the risk of transmitting a genetic disease to your children.
International genetic organizations like the American College of Obstetrics and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend that carrier screening information is offered to all people planning to start a family.
|Cystic fibrosis||1 in 45||General population|
|Alpha thalassemia||1 in 25||General Population|
|Beta thalassemia||1 in 28||Mediterranean|
|Spinal muscular atrophy||1 in 35||Caucasian|
HOW IS Adventia CARRIER SCREENING ADMINSTRERED?
- ASK YOUR HEALTHCARE PROVIDER ABOUT Adventia
- YOUR HEALTHCARE PROVIDER WILL COLLECT A CHEEK SWAB SAMPLE FROM YOU
- THE SAMPLE WILL BE SENT TO OUR LABORATORY
- THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
- RESULTS WILL BE SENT TO YOUR HEALTHCARE PROVIDER WITHIN 2-3 WEEKS
- What is genetic
Genetic testing identifies changes in the DNA. Some changes have no effect on health and development, while others can cause genetic diseases with moderate to severe effect on our health.
- What are genetic
Genetic diseases are caused by a variant (a version that is different from the standard) in a gene. Variants are also known as mutations. Depending on the gene involved, diseases are inherited in different patterns:
- Autosomal dominant diseases: The mutation is present in only one gene copy and is sufficient to cause the disease to be expressed in the person with the mutation. Examples: Huntington’s disease, Neurofibromatosis
- Autosomal recessive diseases: The mutation is present in only one gene copy but it is not ‘powerful’ enough to cause the disease to be expressed in the individual with the mutation, who is known as a ‘carrier’. Carriers are healthy, but two carriers of the same mutation could have a child who is affected if they both pass on their mutated gene copy. Examples: Cystic fibrosis, Beta-thalassemia
- X-linked diseases: The mutation is present on the X chromosome, one of the two chromosomes that define gender. Females have two X chromosomes, so when they inherit a mutation in one of their X chromosomes, they are carriers with or without exhibiting symptoms (see question 7). Males have only one X chromosome, so when they inherit a mutation in their X chromosome, they are affected. Examples: Duchenne Muscular Dystrophy, Fragile X
- How are diseases
A healthy person has two pairs of 23 chromosomes in all the cells of their body (except for the gametes, egg or sperm, where they have just 23 chromosomes). Half of each pair is inherited from their mother and the other half from their father. Chromosomes have hundreds of small ‘sections’ on them called genes. Genes have the ‘recipe’ of our genetic material (DNA) and are responsible for executing it properly; they make up our physical characteristics and tell our bodies how to work and function properly. Sometimes, instead of the correct gene, a gene with a mutation (change) will be inherited instead. Depending on the mutation and where it occurs, mutations could have no effect, or they could cause genetic diseases by changing how the gene works, prevent if from working properly or from working altogether.
- What is carrier
Carrier screening is a test that can be taken by any individual to check if they are carriers of a genetic disease.
- What is a
A carrier is an individual who has a mutation in one of their two gene copies. Carriers are not affected, and they don’t show any signs or symptoms of a disease. Two carriers of the same mutation could have a child who is affected by the genetic disease if they both pass on the gene carrying the mutation.
- What are monogenic
Monogenic diseases are caused by a mutation in a single gene. They are also known as single gene diseases.
- Why do X-linked
diseases affect males
and females differently?
As males have one X and one Y chromosome, when their X chromosome has a mutation the disease always manifests. Females have two X chromosomes, and when one of their X chromosomes has a mutation they are carriers of an X-linked disease. They may exhibit some symptoms of the disease or no symptoms at all, due to ‘X-inactivation’ – a mechanism that always ‘shuts off’ one of the two X chromosomes in females so they don’t have twice the number of genes as males, which would be toxic. As this process is random in the female cells, the X chromosome with the mutation can be silenced in varying degree in female carriers; thus explaining the symptom variability shown in X-linked diseases.
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Type of personal information NIPD Genetics may collect through its Sites
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