Genetic examinations list
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Sex
Testing for maternal contamination
Testing of maternal contamination of material after collection by invasive techniques, using QF-PCR.
Material:
Peripheral blood, Isolated DNA from bloodSTATIM
2 daysQF-PCR gender testing
Testing for sex chromosomes X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
Turnover Time:
3 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
Turnover Time:
3 weeksSTATIM
1 weekCascade testing of the product of conception (by QF-PCR methods) excluding maternal contamination
Cascade aneuploidy testing of aborted foetal tissue using QF-PCR, arrays or karyotyping; excluding maternal contamination.
Material:
Conception product, DNA from the product of conceptionTurnover Time:
3 weeksSABSCAN: Non-Invasive Test for Early Pregnancy Loss
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.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekTesting for maternal contamination of the conception
Testing for maternal contamination of aborted foetal tissue by QF-PCR.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood