For professionals - TRISOMYtest.sk - neinvazívne skríningové vyšetrenie z krvi matky

TRISOMY test is a non-invasive prenatal screening test (NIPT) used to identify the risk of full foetal trisomy types related to chromosomes 21, 18 and 13, which are associated with Down, Edwards or Patau syndromes, respectively. Test results can also include information about the probable sex of the foetus, but only if requested by the pregnant woman herself.

TRISOMY test + detects the risk of full trisomy types related to chromosomes 21, 18, and 13, identifies the chromosome sex of the foetus, and identifies chromosome number aberrations. In additon, it detects the risk of selected chromosome microdeletions involving missing chromosome parts. TRISOMY test + results can also include information about the sex of the foetus based on chromosome analysis.

Differences	TRISOMY test	TRISOMY test +
Trisomy	Down syndrome (trisomy 21)	Down syndrome (trisomy 21)
Trisomy	Edwards syndrome (trisomy 18)	Edwards syndrome (trisomy 18)
Trisomy	Patau syndrome (trisomy 13)	Patau syndrome (trisomy 13)
Sex	Probable	Chromosome-based
Sex chromosome aberrations	-	Turner syndrome (45,X)
Sex chromosome aberrations	-	Klinefelter syndrome (47,XXY)
Sex chromosome aberrations	-	XYY syndrome (47,XYY)
Sex chromosome aberrations	-	XXX syndrome (47,XXX)
Microdeletion syndromes	-	DiGeorge syndrome (22q11)
Microdeletion syndromes	-	Prader-Willi syndrome and Angelman syndrome (15q11)
Microdeletion syndromes	-	Cri-du-chat syndrome (5p15)
Microdeletion syndromes	-	1p36 deletion syndrome
Microdeletion syndromes	-	Wolf-Hirschhorn syndrome (4p16.3)
Price	350 €	500 €
Results available within*	5 working days	5 working days

*If a blood sample cannot be processed by the laboratory in accordance with the principles of good laboratory practice (e.g. in the event of a low foetal DNA concentration in the sample), or if the analytical results do not provide an answer to the diagnostic question, the laboratory offers a repeat examination based on the same blood sample free of charge. Under the circumstances, the period for the delivery of test results will change from 5 to 8 days (this generally applies to about 10% of all samples).

TRISOMY test

There is a certain amount of foetal DNA in maternal blood already in the early stages of pregnancy. Using a genetic screening laboratory test, it is possible to isolate this foetal DNA and analyse it to determine the sex of the foetus and detect whether foetal chromosome aberrations are present.

WHAT IS TRISOMY TEST?

TRISOMY test +

Using a non-invasive, safe and painless method, it is possible to learn a lot more information based solely on a sample of maternal blood. Compared to standard TRISOMY test screening, TRISOMY test + is a premium genetic laboratory screening test that can detect a greater number of chromosomal abnormalities.

WHAT IS TRISOMY TEST +?

Who is the test for?

TRISOMY test can be requested by any pregnant woman who wants to be sure for the rest of her pregnancy that her fetus is not affected by the trisomy types the test is designed to detect, i.e. trisomies 21, 18, and 13.

WHO DO WE TEST?

Information for professionals

TRISOMY test is based on analysing the whole genome sequence of free foetal DNA isolated from the peripheral blood of a pregnant woman. The test is characterised by high sensitivity and specificity.

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A handbook for professionals

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