Genetic examinations list
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Sex
QF-PCR gender testing
Testing for sex chromosomes X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …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 …Turnover Time:
3 weeksSTATIM
1 weekDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
4 weeksSTATIM
1 weekUniparental foetal disomy: invasive diagnosis
Genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome originating from the mother and one from the father is present in the foetus.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
10 daysSTATIM
7 daysFoetal karyotyping from CVS
Foetal karyotyping from chorionic villi to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksKaryotyping from AMC
Foetal karyotyping from amniotic fluid to determine chromosomal aberrations of the foetus.