WHAT IS Adventia CARRIER SCREENING?
Adventia is a new genetic test for carrier screening. Adventia can be done by any individual to check if they are carriers of a genetic disease to minimize their risk of transmitting the disease to their children. Carriers are not affected, and don’t show any symptoms of a disease, but could have a child who is affected.
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.
HOW DOES Adventia CARRIER SCREENING HELP ME?
Adventia carrier screening can help you minimize your risk of transmitting a genetic disease to your children, and give you insight into your reproductive choices. By testing moderate to severe diseases that could severely affect quality of life, Adventia can inform you of your choices if a genetic change is identified:
- Genetic counselling on the potential impact of the disease and your reproductive options
- Prenatal diagnosis during pregnancy to know whether your baby is affected
- In-vitro fertilization (IVF) and preimplantation genetic testing (PGT-M) to make sure your baby will not be affected
- Fertility treatments and choosing a compatible gamete donor without the same mutation
- Early intervention, therapies where available and better clinical management for affected children
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 ADMINISTERED?
- 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.
NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a broad spectrum of healthcare services to its customers through its expansive portfolio of molecular and clinical laboratory tests in all disciplines.
At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal information. Personal information or personal data means any information that identifies, relates to, describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with a particular individual, such as name, identification number, location data, an online identifier or to one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social identity of that individual.
NIPD Genetics collects and processes your personal information according to the General Data Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural persons with regards to the processing of personal data and for the free movement of such data (L. 125(I)/2018). The following principles lie at the heart of our approach to handling personal data:
- Lawfulness, fairness and transparency – We collect and process personal data in a lawful and transparent manner and clearly communicate to our customers how their personal data will be used.
- Purpose limitation – We only use personal data for the purpose for which they have been collected.
- Data minimization – We only collect the data that is absolutely necessary in relation to the purposes for which they are processed.
- Accuracy – We take every reasonable step to ensure that personal data collected are accurate and up to date.
- Storage limitation – We do not keep personal data for longer than it is needed. Personal data are periodically reviewed and erased if they are not needed or anonymized and stored for scientific research purposes.
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NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and ensuring that personal information is collected and processed in line with these principles. The contact details of the Data Protection Officer (DPO) can be found below:
Email address: firstname.lastname@example.org
Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus
Telephone number: + 357 22266888
PERSONAL INFORMATION COLLECTION AND PROCESSING
We collect and process several types of personal information from and about users of our websites and of our products and services, including:
- Personal and sensitive information: some of our products and services may involve testing of biological samples that we or our customers use to create test reports, genotyping or sequencing services for research or clinical purposes and the receipt, creation, or analysis of genomic or other data derived from samples, including through our customer’s use of our software as a service product. In receiving samples and providing our products and services, we may obtain your name and surname, date of birth, email address, home address, telephone number, gender, ethnicity and other health related information.
- Computer, device and browsing information: as you interact with our products and services online, including this website, we may use automatic data collection technologies to collect certain information about your computer or device, as well as browsing actions and usage patterns. This data may include your IP address, browser type or version. The technologies we use for this automatic data collection may include cookies. You can control cookies by adjusting your cookies settings.
Information about children
If you are under 18 years of age, do not register on our website or provide any information about yourself to us. We do not provide our products or services directly to children or proactively collect their personal information. Despite this prohibition, it is possible that we may sometimes be given information about children while handling samples from our customers in our clinical labs, or through use of our products and services by our customers and partners. If we become aware that we have inadvertently collected personal information from children under the age of 18, without parental consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable laws.
LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION
Your personal information is collected by NIPD Genetics for the following purposes:
- To provide you with our products and services, respond to your inquiries or fulfill your requests and otherwise manage your relationship with us. The legal basis for processing is to meet the requirements of a contract, to comply with our legal obligations and/or because we have a legitimate interest in responding to requests for information about our products and services.
- To communicate with you about content and product offerings, newsletters and event invitations which are relevant to your interests and in line with your preferences. The legal basis for processing is the individual’s explicit consent prior to sending the information and managing individuals preferences.
- To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
- To monitor and record information relating to the use of our products and services, including our website. The legal basis for processing is our legitimate interest in order to improve our products and services and our website for individuals.
To provide our products and services, NIPD Genetics may collect, receive and process biological samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information and use genetic information to provide our products and services. In some cases, NIPD Genetics may provide interpretations of genetic information on behalf of its customers, including healthcare providers. This is only done pursuant to a written contract or a Sample Information Form with a patient’s informed consent and is subject to applicable legal and ethical safeguards.
This sensitive information described above is collected by NIPD Genetics for the following purposes:
- To provide support and maintenance services to customers who use our products and services – The legal basis for processing is to meet the requirements of a contract.
- To provide genotyping and sequencing services and analysis for our customers, including healthcare providers. The legal basis of this processing is to meet the requirements of a contract or as allowed in the Sample Information Form with a patient’s informed consent.
- To conduct genotyping and sequencing services and analysis for quality control, process and product development and improvements, and optimization in our labs to reflect quality improvements and advances in our technology. The legal basis for processing is the patient’s informed consent given through the Sample Information Form.
Transfer of Data
Your information, including personal data, may be transferred to - and maintained on - computers located outside your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.
If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.
Disclosure of Data
NIPD Genetics complies with the General Data Protection Regulation and will not sell or trade your personal information.
NIPD Genetics may disclose your personal information in the good faith that such action is necessary:
- To comply with a legal obligation
- To protect and defend the rights or property of NIPD Genetics
- To prevent or investigate possible wrongdoing in connection with our products and services
- To protect against legal liability
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You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our websites.
Examples of Cookies we may use:
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We may use third-party Service Providers to monitor and analyze the use of our websites.
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For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page
SECURITY OF DATA
PERSONAL DATA RETENTION
We may employ third party companies and individuals to facilitate, maintain or operate our websites (“Service Providers”), to provide the websites on our behalf, to perform service-related services or to assist us in analyzing how our websites are used.
These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.
LINKS TO OTHER SITES
We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.
YOUR LEGAL RIGHTS
NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of your legal rights in accordance with data protection laws. These rights are as follows:
- The right to withdraw consent at any time – in cases where processing is based on your consent
- The right of access – at any given time you have the right to know what information about you we hold and receive information about the processing activities we perform
- The right to rectify – you have the right to correct, amend and complete personal data that is incomplete
- The right to erasure (“right to be forgotten”) – you can request that your personal information is deleted
- The right to object – you can object at any time to our processing of your personal information
- The right to restriction of processing – this applies in the event:
- You dispute the accuracy of your personal information and until it is verified
- You oppose to the deletion of personal data and ask instead to delete the use of it
- The personal information is no longer necessary for us
- You object to the processing and we are considering whether our legitimate grounds for processing prevail over the reasons you oppose to the processing
- The right to data portability – at any given time you have the right to receive the personal information we hold about you in a structured, commonly used and machine-readable format (pdf, word etc.). You also have the right to request that these data are transferred to another service in a safe and secure way
You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal Data Protection.
Effective date: 18/06/2021Ok got it!