Adventia II - comprehensive panel of monogenic disease carriers of 231 genes (Test for individual)

What is the Adventia II test - comprehensive panel of monogenic disease carriers of 231 genes (individual test)? 

PLEASE NOTE: THIS DESCRIPTION APPLIES TO THE COMPREHENSIVE PANEL VERSION OF THE STUDY FOR ONE PERSON 

Adventia is a state-of-the-art genetic screening test that allows you to determine whether a person without symptoms is a carrier of a genetic disease. The genetic information provided by Adventia can help you make informed family planning decisions, reducing the risk of passing a genetic disease to your offspring. Adventia, a comprehensive panel, is a study that includes 231 genes associated with diseases with an autosomal recessive and X-chromosome-coupled inheritance model. 

The full list of genes and diseases tested and more detailed information can be found HERE. 

In the price of the test, you receive a free consultation with a clinical geneticist after receiving the result.

For whom is the Adventia II - Comprehensive Panel for Carriage of Monogenic Diseases 231 genes (individual test)?  

According to the latest recommendations, a test to determine carrier status should be offered to every person/couple planning to have offspring. Adventia is a test of significant preventive importance, so it is highly recommended: 

1. Persons/couples planning a pregnancy, either naturally or using assisted reproduction techniques (in vitro) to assess the risk of serious genetic disorders in the offspring. 
2. Individuals with a family history of genetic diseases who want to find out if they are carriers of variants responsible for these conditions. 
3. Donors of sperm and ova, and recipients using donor sperm or ova; 
4. Pregnant women/couples who wish to obtain information about the risk of genetic disease in their developing child. 
5. Individuals from certain ethnic groups where there is a higher risk of carrying certain variants (e.g., lesions associated with Tay-Sachs disease in the Ashkenazi population). 
6. Any adult wishing to know their carrier status. 

It is advisable to consult with a clinical geneticist before you decide to take the test.

How to prepare for Adventia II - comprehensive panel of monogenic disease carriers of 231 genes (individual study)?   

The test does not require special preparation. You do not need to be fasting or stop taking medications. A referral from your doctor is not required.   Remember to take a one hour break from eating, drinking, chewing gum and brushing your teeth before the test. Once you have purchased the test, you will need to come in to have a swab taken from the inside of your cheek during the hours of operation of the collection center of your pre-selected facility.  You can complete the test within 3 months of its purchase (counting from the date indicated in the order confirmation).

How is the Adventia II test - comprehensive panel of monogenic disease carriers of 231 genes (individual test)?  

• Buy Adventia - choose the Adventia test variant you are interested in and make a purchase at any Damian Medical Center facility or online. 
• Come for sample collection during the collection center's business hours to one of our facilities. You do not need to be fasting or stop taking medications. A referral from your doctor is not required. 

NOTE: The test involves taking a swab from the inside of the cheek and requires no preparation, but it is worth knowing a few important points to avoid disqualification of the collected 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 at Medicover Genetics' state-of-the-art laboratories in Cyprus. 
• You will receive the result 3 - 4 weeks after the sample arrives at the laboratory. An e-mail will be sent to the previously indicated e-mail address with the test result. 
• FREE GENETIC CONSULTATION - after receiving the test report, you can discuss the result with a geneticist within 3 months of receiving the result.

How long to wait for the result and how to interpret it? 

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 the detected variants and their clinical significance, so it includes information about your individual carrier status in the tested genes. The report prepared is comprehensive and provides guidance for further treatment. 

The Adventia report reports pathogenic and probably pathogenic variants in selected genes. 

In order to accurately interpret the results and plan further steps, it is advisable to consult a clinical geneticist or genetic counseling center. Upon receipt of the result, we provide a free consultation with a clinical geneticist.

How can the Adventia II - Comprehensive Panel of Monogenic Disease Carrier 231 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 has a single pathogenic variant in one of the genes, but it does not cause disease, he or she is a carrier of a recessive disease. When two carriers of the same recessive disease plan a child, there is a risk that the child will inherit the altered variant from both parents and become ill. 

Carriers do not have symptoms, so they are not aware of their status or the risk of passing the altered variant to their offspring. In fact, many variants responsible for recessive diseases can be passed down through the generations without any signs of disease. The only way to find out if you are a carrier is to take a genetic test. 

That's why it's a good idea to take the Adventia test, which is a non-invasive and completely safe test to determine the carrier of genetic diseases.

Why choose the Adventia II study - a comprehensive panel of 231 gene monogenic disease carriers (individual study)?  
Adventia is designed as a comprehensive and valuable test for everyone, regardless of ethnicity and family history. It is based on modern and advanced technology, so it provides meaningful results in a short period of time. This helps minimize the risk of passing a genetic disease to offspring. 

Diseases tested by Adventia's Comprehensive Panel: 

• mostly have a severe phenotype (clinical characteristics) 
• have a high carrier rate in the general population 
• can seriously impair quality of life 
• may be treatable or slowed down by early medical action. 

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

Technical data on NGS testing: 

• Whole exons of selected genes and clinically relevant intron sites are analyzed 
• Variants detected: SNVs (single nucleotide changes), small insertions/deletions (INDELs) and copy number variations (CNVs) 
• Classification of variants according to ACMG guidelines 

Where can the Adventia II - Comprehensive Panel for Monogenic Disease Carriage of 231 Genes (individual test) be performed?   

The Adventia test is available at Damian Medical Center facilities. Choose a location, purchase the test and come for the intake to the selected facility.