TRISOMY test Complete

+Smith-Lemli-Opitz syndrome

About the test

TRISOMY test Complete +Smith-Lemli-Opitz syndrome is an additional assessment that can be ordered with TRISOMY test Complete (TTC). As part of the complementary assessment, circulating DNA of the pregnant woman containing also free fetal DNA is analyzed and the result is the determination of the presence of selected mutations in the DHCR7 gene, which are among the most common mutations causing Smith-Lemli-Opitz syndrome in the Slovak population. Before ordering the test, it is required that you read the latest version of the Information Concerning Genetic Laboratory Testing

The price of the test

635 €

What does the test reveal?

Thanks to a detailed analysis of fetal DNA, the test will detect disorders in the number and amount of genetic material across all 23 pairs of chromosomes, both at the whole chromosomal and subchromosomal levels.

In addition to the most common trisomies of chromosomes 21, 18, 13, the test also reveals the so-called rare changes in the number of any of the chromosomes, including sex chromosomes, which may be associated with possible complications during pregnancy.

The test can also detect deletions and duplications which are mostly associated with clinically relevant fetal disorders. These cannot be detected by other commonly used prenatal screening methods.

It will also reveal any possible false positive results of biochemical prenatal screening while minimizing the need for amniocentesis (invasive collection of a sample of amniotic fluid).

The presence of the most common mutations in the DHCR7 gene causing Smith-Lemli-Opitz syndrome.

If you are interested, the test can also determine the sex of the fetus.

TRISOMY test Complete may be taken by any pregnant woman at her own request after a consultation with a specialist in medical genetics. The test is suitable for any pregnant woman starting from the 11th week of pregnancy if:

TRISOMY test Complete can be used in pregnancies using various methods of assisted reproduction, including cases with donated gametes (egg in a woman, sperm in a man), however, it cannot be used in multiple pregnancies.

Test overview