Genetic examinations list
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Examination by microArray technique (SNP Array)
Examination by SNP array method for genome-wide detection of submicroscopic chromosomal aberrations (deletions and/or duplications) in samples of postnatal origin.
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:
4 weeksSTATIM
2 weeksDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Cultured cells
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 …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, Cultured cells, DNA isolated from cultured cells
Turnover Time:
4 weeksSTATIM
2 weeksFoetal 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.
Material:
Cultured cellsTurnover Time:
2 weeksKaryotyping from cordocentesis
Foetal karyotyping from cord blood to determine chromosomal aberrations of the foetus.