Genetic examinations list
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Sex
PRENASCAN
Screening of cell-free foetal DNA (cfDNA) from the blood of a pregnant woman to detect aneuploidy of sex and non-sex chromosomes of the aborted foetus and its gender. From week 10 of the pregnancy.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekSmith-Lemli-Opitz syndrome – detection of the 3 most common mutations in the DHCR7 gene (p.Trp151Ter, p.Val326Leu and c.964-1G>C)
Screening of the 3 most common DHCR7 gene mutations: c.452G>A (p.Trp151Ter), c.976G>T (p.Val326Leu), c.964-1G>C (IVS8-1G>C) using Sanger sequencing, which represent about 81% of all mutations in patients with SLOS (Smith-Lemli-Opitz syndrome, OMIM 270400).
Material:
Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from cultured cells