WHAT IS Evartia?

Evartia is a new genetic test for metabolic testing, which screens for genetic mutations in people suspected of having an inherited metabolic disease. Defects in metabolic genes disrupt the actions of the metabolic pathways they are involved in, leading to either toxic accumulation of substances or deficient production of important enzymes and proteins. These can cause a variety of symptoms, that usually manifest shortly after birth or within weeks of birth; but they could also progress slowly over the years and appear in infancy, childhood, adolescence, early or late adulthood. Symptoms and metabolic episodes can also be triggered by specific foods or medications, dehydration, minor illness, sweat or other factors, which would necessitate urgent, appropriate action.

The variability of symptoms and the complexity of detecting metabolic diseases, especially in adult patients, makes identifying a metabolic disorder complicated and time-consuming. Evartia is an important and reliable test that can help uncover the cause of persistent, debilitating symptoms through genetic testing. Identification of the disease-causing variant can help patients receive the appropriate and essential treatment that can markedly improve or reduce their symptoms, benefiting their quality of life.

METABOLIC DISORDERS ARE UNDER-RECOGNIZED AND UNDER-DETECTED

Traditionally regarded as 'childhood diseases', the prevalence of adults with metabolic disorders who are undetected is unknown. Metabolic diseases have a range of symptoms and age of onset, and no specific phenotype. Also, they may have overlapping symptoms with neurologic, psychiatric or cardiovascular disorders. Without treatment, they can get progressively worse, cause acute pain, and chronic, irreversible complications.

The path towards identifying a metabolic disease hasn’t been straightforward. If a patient with a metabolic disease is not identified through newborn screening, due to the metabolic disease not being a part of the diseases tested or due to technological limitations, detection depends on the time of symptom onset. This can be anytime from infancy, childhood, adolescence or adulthood . Often, patients have to undergo lengthy and complicated biochemical or enzymatic testing which includes a variety of specimen types such as blood, urine or sweat. Additionally, invasive biopsies from muscle or cerebrospinal fluid may be needed. Although such tests are useful, they mostly rely on reference intervals which may not always be suitable for the patient's age, gender or current state of health – whether they are in the middle of a metabolic crisis or not.

With Evartia, you are one genetic test away from taking informed, accurate, unbiased and early decisions on the best clinical management that will truly benefit your patient’s health.

WHY CHOOSE Evartia?

Patient Benefits

  • Identifies complex diseases with a wide spectrum of symptoms and age of onset
  • Reduces the need for complex and invasive tests
  • Leads to the most effective or contraindicated therapies, including investigational therapies or possible clinical trials
  • Can reduce symptoms and chronic complications and revent disease progression with appropriate therapy
  • Allows for taking informed decisions on the best clinical management for your patient

Technological Benefits

  • Testing for an extensive list of clinically actionable mutations
  • Superior targeted genomic analysis, targeting all coding sequences of the tested genes
  • Expandable panel
  • High precision and accuracy
  • High sensitivity and specificity

WHAT DOES Evartia TEST FOR?

To facilitate the detection process, Evartia metabolic test covers the major classes of inherited metabolic diseases and is offered as a single, detailed panel of 223 genes involved in metabolic pathways.

For a complete list of the 223 genes tested by Evartia, please click here.

WHO IS Evartia FOR?

Patients with common symptoms of a metabolic disease

Patients with a spectrum of overlapping symptoms that vary in age of onset and severity

Patients with neurological symptoms that haven’t improved with routine therapies

Individuals with a family history of a metabolic disease

WHY CONSIDER METABOLIC TESTING?

Inherited metabolic diseases exhibit a wide variety of characteristics, both in the age of onset that symptoms start, as well as in the clinical presentation and severity of symptoms. The misconception that metabolic disorders are solely neonatal diseases has kept many adults with metabolic diseases undetected. Although children and adolescents also suffer from metabolic disorders, adult manifestation of symptoms differs from the classic presentation of signs and symptoms seen in children for the same disease, and may also include cardiovascular or neurological symptoms. This makes identifying a metabolic disorder in an adult an extremely complex and extensive process. Importantly, these patients have been receiving wrong and unnecessary treatments, and are left with persistent, debilitating symptoms and acute pain.

Evartia could provide you with a simple, straightforward answer for your patients, regardless of their age and how complicated their clinical presentation is. Accurate detection of the specific mutation and disorder can signal the start of beneficial treatment that can prevent or reduce acute, life-threatening symptoms and chronic complications, benefiting your patient's quality of life.

Symptoms of inherited metabolic diseases include vomiting, weight loss, seizures, abdominal pain, neurological or psychiatric symptoms, vision disturbances, impaired kidney function, liver, cardiovascular, respiratory or motor abnormalities, behavioral or learning problems, distinctive facial features and recurrent infections.

TECHNOLOGICAL ADVANTAGES

TARGETED TECHNOLOGY

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

FULL COVERAGE

Evartia screens for all coding regions on the genes tested, examining single nucleotide variants, small insertions and deletions and copy number variants down to single exon resolution.

NOVEL BIOINFORMATICS

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

WHAT WILL THE REPORT TELL ME?

  • Result on mutations tested
  • Thorough interpretation and clinical significance of variants

Carrier status will not be reported for recessive conditions. Re-interpretation of variants of uncertain significance will be performed at routine intervals.

WHAT CAN I DO AFTER Evartia?

Evartia can detect the genetic variant that is responsible for causing your patient's symptoms and clinical condition. This will help you to:

Identify your patient’s disease

Determine an accurate prognosis

Provide the most optimal treatment and clinical management

Consider applicable investigational therapies, gene therapies or clinical trials for the specific mutation or metabolic pathway

Be aware of specific complications that may arise, and how to avoid or manage them

Inform your patient of how this disease will affect their lives and that of their families

Recommend testing to family members, if applicable

HOW TO ADMINISTER Evartia?

  • RECOMMEND Evartia TO YOUR PATIENTS
  • COLLECT A BUCCAL SWAB FROM YOUR PATIENT
  • SEND THE SAMPLE TO NIPD Genetics
  • THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
  • RESULTS WILL BE SENT TO YOU WITHIN 2-4 WEEKS FROM SAMPLE RECEIPT

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.

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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.

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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.

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Examples of Cookies we use:

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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.

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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.

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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.

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

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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

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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

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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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