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.

Adventia Panels

1

FOCUS PANELS

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

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19

GUIDELINES-BASED PANEL

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.

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229

COMPREHENSIVE PANEL

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.

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Adventia, TESTING BEYOND ETHNICALLY-PREVALENT DISEASES
Ethnicity-based carrier screening only tests for a very limited number of diseases and may leave individuals who are multiracial or unaware of their ethnic or genetic background undiagnosed. While there are certain diseases that are more prevalent in some populations, due to genetic diversity and migration, an expanded carrier screening test offers comprehensive and unbiased information.

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?

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

WHEN SHOULD MY PATIENTS GET TESTED?

Adventia carrier screening can be done 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.

ROBUST TECHNOLOGICAL DESIGN

TARGETED TECHNOLOGY

Adventia carrier screening is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.

FULL COVERAGE

Adventia screens for all coding regions on the genes of interest, increasing the chances of identifying any pathogenic or likely pathogenic mutations: single nucleotide variants, small insertions and deletions, and copy number variants.

NOVEL BIOINFORMATICS

Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Adventia carrier screening.

WHAT DOES THE REPORT LOOK LIKE?

reports-image

POSITIVE OR NEGATIVE RESULTS ON MUTATIONS TESTED

THOROUGH INTERPRETATION AND SIGNIFICANCE OF POSITIVE MUTATIONS IDENTIFIED

WHAT CAN I DO AFTER Adventia CARRIER SCREENING?

Depending on the results, the disease, and whether the test was performed by an individual wanting to know more about their genetic profile or a couple planning their family, there are multiple choices you can recommend to your patients:

  • Genetic counseling to receive more information on the potential impact of the disease, and discuss their choices on how to minimize the risk of transmitting the disease to their children
  • Having prenatal diagnosis during pregnancy, if they wish to know whether their baby is affected or not
  • Choosing in-vitro fertilization (IVF) and preimplantation genetic testing (PGT-M) if they want to make sure their baby will not have the affected phenotype
  • Choosing a compatible gamete donor without the same mutation
  • Early intervention, therapies where available and better clinical management for affected children

Adventia CARRIER SCREENING

  • Genetic insight about patient’s carrier status
  • Testing for moderate to severe diseases which can severely affect quality of life, health and development
  • Minimize transmission of genetic diseases to offspring
  • Comprehensive report with meaningful results
  • Reproductive planning
  • Powerful technology
  • Short turn-around time
  • Safe and easy to perform

WHY OFFER CARRIER SCREENING TO MY PATIENTS?

Anyone can be a carrier of recessive mutations and pass them to the next generation without their knowledge. A recessive disease manifests only when a child inherits a pathogenic mutation from both parents. Without carrier screening, asymptomatic carriers of recessive mutations often discover their carrier status only after they have an affected child.

  • Knowledge of an individual’s genetic profile can help them understand their risk of transmitting a genetic disease to their children, and evaluate their reproductive options to prevent that risk.
  • Genetic diseases may be rare with varying prevalence but can have adverse effects on health and development, or be life-threatening.
  • Early knowledge about diseases that can be clinically manageable, like metabolic disorders, can result in earlier intervention, therapies where available and better clinical management for affected children.

International genetic organizations like the American College of Obstetricians and Gynecologists (ACOG), and the American College of Medical Genetics and Genomics (ACMG) recommend that carrier screening for the most serious and prevalent genetic diseases is offered to everyone planning to start a family. Several professional organizations like the National Society of Genetic Counselors (NSGC), Perinatal Quality Foundation and Society for Maternal-Fetal-Medicine (SMFM) also agree that carrier screening information should be provided to all pregnant women.

DISEASE CARRIER FREQUENCY POPULATION
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
CUMULATIVE FREQUENCY
1 in 4 people is a carrier of a genetic disease
Lazarin et al., 2013

HOW TO ADMINISTER Adventia CARRIER SCREENING?

  • DISCUSS Adventia WITH YOUR PATIENT
  • COLLECT A CHEEK SWAB FROM YOUR PATIENT
  • SEND THE SAMPLE TO OUR LABORATORY
  • THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
  • RESULTS WILL BE SENT TO YOU WITHIN 2-3 WEEKS

NIPD Genetics - Privacy Policy

General Statement

This Privacy Policy applies only to www.nipd.com and its subdomains (hereafter collectively referred to as “Sites") that link to this policy. NIPD Genetics Sites are owned by NIPD Genetics Public Company Ltd and are operated by NIPD Genetics Public Company Ltd and on occasion by a third-party that is responsible for the technical maintenance of the Sites.

If, you do not agree with this Privacy Policy, please do not access or use any of NIPD Genetics Sites.

NIPD Genetics values your interest in NIPD Genetics, its products and its services. NIPD Genetics takes the protection of your data seriously.

Personal data for purposes of this Privacy Policy, is any information by which you can be individually identified, including, but not limited to, your name, profession, address, e-mail address, and telephone number.

You may contact NIPD Genetics Public Company Ltd at
NIPD Genetics Public Company Ltd
Neas Engomis 31
Engomi, Nicosia
2409, Cyprus

NIPD Genetics Data Protection Officer can be reached at dpo@nipd.com

This Privacy Policy applies only to the Sites as defined above and which are operated by NIPD Genetics. The NIPD Genetics Privacy Policy seeks to inform the users of its Sites of the following:

NIPD Genetics will not use or share your information with anyone, except as described in this Privacy Policy. This Privacy Policy does not apply to any information we might collect by other digital and offline means and or from other digital and offline sources. The use of information collected through our Sites shall be limited to the purposes under this Privacy Policy and our Terms of Use to customers.

This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.

We use your data to provide and improve the Sites. By using the Sites, you agree to the collection and use of information in accordance with this policy. Unless otherwise defined in this Privacy Policy, terms used in this Privacy Policy have the same meanings as in our Terms and Conditions, accessible from www.nipd.com

Type of personal information NIPD Genetics may collect through its Sites

Information Collection And Use

We collect several different types of information for various purposes to provide and improve our Sites and services to you.

Personal Data

While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:

If you send us a query via our Contact us form, your email address, the content and any follow up emails are retained indefinitely.

Cookies and Usage Data

Usage Data

We may also collect information how the Sites are accessed and used ("Usage Data"). This Usage Data may include information such as your computer's Internet Protocol address (e.g. IP address), browser type, browser version, the pages of our Sites that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

Tracking & Cookies Data

We use cookies and similar tracking technologies to track the activity on our Sites and hold certain information.

Cookies are files with small amount of data which may include an anonymous unique identifier. Cookies are sent to your browser from a website and stored on your device. Tracking technologies also used are beacons, tags, and scripts to collect and track information and to improve and analyze our Sites.

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 Sites.

Examples of Cookies we use:

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

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www.nipd.com uses the collected data for various purposes:

Transfer of Data

Your information, including personal data, may be transferred to — and maintained on — computers located outside of 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.

www.nipd.com 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 data 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 protection of personal data regulation and will not sale or trade your personal data.

NIPD Genetics may disclose your personal data in the good faith belief that such action is necessary to:

Security of Data

The security of your data is important to us, but remember that no method of transmission over the Internet, or method of electronic storage is 100% secure. While we strive to use commercially acceptable means to protect your Personal Data, we cannot guarantee its absolute security.

Service Providers

We may employ third party companies and individuals to facilitate, maintain or operate our Sites ("Service Providers"), to provide the SItes on our behalf, to perform service-related services or to assist us in analyzing how our Sites is 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.

Analytics

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

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

Access to your personal data, correction, deletion, and Opting Out

You have the right to review, update or delete any of your personal data by sending a request at NIPD Genetics Personal Data Officer pdo@nipd.com

Links to Other Sites

Our Sites 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.

Children's Privacy

Our Service does not address anyone under the age of 18 ("Children").

We do not knowingly collect personally identifiable information from anyone under the age of 18. If you are a parent or guardian and you are aware that your Children has provided us with Personal Data, please contact us. If we become aware that we have collected Personal Data from children without verification of parental consent, we take steps to remove that information from our servers.

Changes to This Privacy Policy

We may update our Privacy Policy 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 Service, prior to the change becoming effective and update the "effective date" at the top 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.

Contact Us

If you have any questions about this Privacy Policy, please contact pdo@nipd.com

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