Some practical specifics associated with the testing, such as the method of blood sampling, payment for the test, or the form of notification, may vary depending on the country in which the testing is carried out. Please, refer to our country-specific websites for such information.

TRISOMY testing excludes the most frequent genetic disorders (trisomy) of chromosomes 21, 18 and 13, which cause Down, Edwards and Patau syndromes. Before the test, consult your doctor specializing in gynaecology and obstetrics or a clinical geneticist.

1. At the doctor’s office

2. Blood sampling

Blood samples are taken by a female nurse at your doctor’s office and subsequently sent to the laboratory to be analysed.

3. Payment for TRISOMY test +

The price of a TRISOMY test depends on the country specification. It is necessary to pay for the test within 14 days of blood sampling. Once this period has expired, the patient’s blood sample will be disposed of. If the patient decides to get tested later on, another blood sample will have to be taken at their doctor’s office.

4. Blood analysis

As soon as the payment has been identified, the sample is analysed using a special method.

1. Blood sample processing

Blood contains a liquid component (plasma, which is yellow) and blood corpuscles (white blood cells, red blood cells and platelets). TRISOMY test is based on analyzing blood plasma, which is separated from blood corpuscles under laboratory conditions. 

2. Plasma cleaning

Free circulating DNA is obtained from plasma samples using a multi-step cleaning procedure – including the DNA that comes from the foetus. Undesirable proteins and other chemical substances are all removed in the process.

3. Preparing DNA samples for analysis

For the purposes of the test, the isolated DNA has to be prepared using a special laboratory process that is called “sequencing library preparation”. This procedure takes about 2 days and involves DNA replication because our experts need a much larger quantity of DNA material compared to what they are able to recover from maternal plasma samples.

4. Sample quality control

TRISOMY test is a costly and time-consuming test whose outcome depends on the quality of the prepared samples for analysis. To make sure it was well-prepared in the laboratory, the “sequencing library” must be checked using special equipment before it is subjected to sequencing analysis.

5. Final analysis – sequencing

If the prepared sample has passed the quality control test, it is ready for sequencing analysis. By reading 30 million fragments over a period of 20 hours, the laboratory staff see if the given foetus is affected by any of the monitored trisomy types.

6. Test outcome

Test results are sent from the laboratory directly to the physician who referred the patient for the test in the first place. Respecting the doctor’s position as a health care provider, the laboratory will not provide any test results directly to the patient.

5. Test results

The patient will receive a text message confirming the delivery of the sample to the laboratory, receipt of their payment, and the completion of the analysis.

6. Interpretation of the results

The doctor who suggested the screening test informs the patient about the result of the test. The laboratory cannot provide the results directly to the patient (respecting the doctor’s position as a health care provider).