Adventia I - baseline panel of monogenic disease carriers 22 genes (individual study)

What is the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test)?

Adventia is a modern genetic screening test that helps determine whether an asymptomatic person is a carrier of a genetic disease. The genetic information provided by Adventia can support informed family planning decisions, reducing the risk of passing on genetic conditions to offspring.

The Adventia – basic panel test includes 22 genes associated with autosomal recessive and X-linked inherited disorders.

The full list of tested genes and diseases, along with more detailed information, is available HERE.

The price of the test includes a free consultation with a clinical geneticist after receiving the result.

Who is the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test) intended for?

According to the latest recommendations, carrier status testing should be offered to every person/couple planning to have children. Adventia is a test of significant preventive value, and is therefore particularly recommended for:

1. Individuals/couples planning pregnancy, either naturally or through assisted reproduction (e.g. IVF), to assess the risk of serious genetic disorders in offspring.

2. Individuals with a family history of genetic disorders who want to know if they are carriers of variants responsible for these conditions.

3. Sperm and egg donors as well as recipients using donor sperm or eggs.

4. Pregnant women/couples who wish to understand the risk of genetic disease in the developing child.

5. Individuals from specific ethnic groups with a higher risk of carrying certain variants (e.g., changes associated with Tay-Sachs disease in the Ashkenazi Jewish population).

6. Any adult individual who wishes to know their carrier status.

Before deciding to take the test, it is advisable to consult a clinical geneticist.

How to prepare for the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test)?

The test does not require special preparation. You do not need to fast or stop taking any medications. A doctor's referral is not required.

Remember to refrain from eating, drinking, chewing gum, or brushing your teeth for 60 minutes before the test.

After purchasing the test, you should visit the chosen facility's sample collection point during working hours for a cheek swab collection.

You can complete the test within 3 months from the date indicated in the order confirmation.

What is the procedure of the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test)?

• Purchase Adventia – select the Adventia test variant of your choice and purchase it at any Centrum Medyczne Damiana facility or online.

• Come in for sample collection during the working hours of our sample collection points. You do not need to fast or stop taking medications. No referral is required.

IMPORTANT! The test involves collecting a cheek swab and requires no special preparation, but it is important to follow a few key instructions to avoid disqualification of the sample.

Do not smoke, eat, drink (except water), brush your teeth, or chew gum within 30 minutes before the sample is taken.

• The collected material is sent for analysis to the modern Medicover Genetics laboratories in Cyprus.

• You will receive your result within 3-4 weeks from the time the sample reaches the laboratory. The test result will be sent to the email address provided earlier.

• FREE GENETIC CONSULTATION – after receiving the test report, you can discuss the result with a clinical geneticist within 3 months of receiving the result.

How long does it take to receive the result and how is it interpreted?

The waiting time for the result is 3–4 weeks from the delivery of the sample to the laboratory. The test report (in Polish) is sent to the email address provided during the medical interview.

Each test report contains information about detected variants and their clinical significance, thus providing details on your individual carrier status for the tested genes. The prepared report is comprehensive and includes recommendations for further actions.

The Adventia report includes pathogenic and likely pathogenic variants in selected genes.

For a precise interpretation of the results and to plan the next steps, a consultation with a clinical geneticist or genetic counseling center is recommended. After receiving the result, we provide a free consultation with a clinical geneticist.

How can the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test) help you?

Each of us is a carrier of certain genetic variants that make us unique. Most of them do not affect our health or development, but some can lead to genetic diseases. If a person carries a single pathogenic variant in one of the genes but does not develop the disease, they are a carrier of a recessive condition. When two carriers of the same recessive disease plan to have a child, there is a risk that the child will inherit the altered variant from both parents and develop the disease.

Carriers do not show symptoms, so they are unaware of their status or the risk of passing the altered variant to their children. In fact, many variants responsible for recessive diseases can be passed down for generations without any signs of illness. The only way to find out if you are a carrier is by taking a genetic test.

That is why it is worth taking the Adventia test – a non-invasive and completely safe test that allows you to determine carrier status for genetic diseases.

Why should you choose the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test)?

Adventia was designed as a comprehensive and valuable test for everyone, regardless of ethnic background or family history. It is based on modern and advanced technology, providing relevant results in a short time. This helps minimize the risk of passing on a genetic condition to offspring.

The diseases included in the Adventia basic panel:

• mostly have a severe phenotype (clinical characteristics),

• are characterized by a high carrier frequency in the general population,

• can significantly lower the quality of life,

• may be treatable or manageable through early medical intervention.

The test is performed by Medicover Genetics in Cyprus – a laboratory with many years of experience.

Technical details of the NGS test:

• Complete exons of selected genes and clinically relevant intronic regions are analyzed.

• Detected variants include: SNV (single nucleotide variants), small insertions/deletions (INDEL), and copy number variants (CNV).

• Variant classification is based on ACMG guidelines.

Where can you take the Adventia I test – basic carrier screening panel for monogenic diseases (22 genes, individual test)?

The Adventia test is available at Centrum Medyczne Damiana facilities. Choose a location, purchase the test, and come for sample collection at the selected facility.