Adventia is a 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 do not show any symptoms of a disease, but could have a child who is affected.

Adventia Panels



Six individual panels for highly frequent and severe genetic diseases: A-Thalassemia, B-Haemoglobinopathies, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X Syndrome, Spinal Muscular Atrophy.

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Single panel that tests 20 selected genetic diseases of high incidence and severity. The Core panel includes all diseases tested in the Focus panels, and other diseases including Phenylketonuria, Fanconi Anemia Group C and Tay-Sachs disease.

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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 Core panel, and covers a wide range of metabolic, cardiovascular and haematological diseases, amongst others.

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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


Couples planning to start their families and want to know about their carrier status
Any individual or couple going through assisted reproduction, including IVF
Sperm and oocyte donors, and recipients of sperm or oocyte donation
Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease
High-risk population groups for specific diseases
People with a family history of a genetic mutation
Any individual wishing to know more about their genetic background


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


Adventia screens for autosomal recessive and X-linked diseases. Carriers of recessive diseases have one healthy gene and one gene with the mutation.


Autosomal Recessive Diseases

Autosomal Recessive Diseases transmission

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 that 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

X-Linked Diseases carrier transmission

X-Linked Diseases affect the X chromosome, found on the 23rd chromosome pair which determines gender. If a mother is a carrier, she has:

  • 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.


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.


1 in 4 people is a carrier of a genetic disease Lazarin et al., 2013

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




  • What is genetic testing?
    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 diseases?

    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 inherited?
    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 screening?
    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 carrier?
    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 diseases?
    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 - Privacy Policy

General Statement

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:

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: dpo@nipd.com

Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus

Telephone number: + 357 22266888

By accessing or using our products or services, or by transmitting information to us by email or other electronic means, you accept our policies, procedures and practices described in this Privacy Policy. If you do not agree with our policies, procedures and practices as described, you can choose not to access or use our products or services or not to transmit personal information to us.

This Privacy Policy applies to NIPD Genetics facilities, its websites www.nipd.com, www.nipdlabs.com, www.nipdlabs.com.cy and their subdomains, that link to this privacy pol icy.


We collect and process several types of personal information from and about users of our websites and of our products and services, including:

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.


Your personal information is collected by NIPD Genetics for the following purposes:

  1. 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.
  2. 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.
  3. To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
  4. 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:

  1. 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.
  2. 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.
  3. 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.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal information will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

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:


Cookies are files with small amount of data which may include an anonymous unique identifiers. Cookies are sent to your browser when you visit a website and stored on your device. Tracking technologies used on the website are beacons, tags and scripts, to collect and track information and to improve and analyze our websites.

We use cookies and similar tracking technologies to track the activity on our websites and collect certain information. This includes information about the computer or device you are using, such as Internet protocol (IP) address, information about the browser type or version, the pages of our website that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

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:

Session Cookies. We use Session Cookies to operate our websites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the websites

Keyword cookies. To understand how visitors discover the websites.


We may use third-party Service Providers to monitor and analyze the use of our websites.

Google Analytics

Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page


We are committed to protecting the security of the information we collect, and we take reasonable physical, technical, and administrative safeguards such as data anonymization and encryption to help protect personal information from unauthorized or inappropriate access or use. It is your responsibility to protect the confidentiality of your passwords, and any other access features associated with your access or use of the website or our products and services, as well as to adhere to any applicable Terms of Use or other contract between us and you or your organization.


We may retain collected information even after you remove it from the website, our Services, or our Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with the website, our Services, or our Products, and to use as provided in this Privacy Policy, the Terms of Use, or an applicable contract between us and you or your organization. How long we retain specific personal information varies depending on the purpose for its use and we may delete or retain your personal information in accordance with applicable law.


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.


Our websites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.


This Privacy Policy may be updated from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our website, prior to the change becoming effective and update the “effective date” at the bottom of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.


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:

You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal Data Protection.

We encourage you to contact us, should you wish to practice any of your legal rights or you have any questions about this Privacy Policy, by sending an email to NIPD Genetics’ Data Protection Officer at dpo@nipd.com.

Effective date: 18/06/2021

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