Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
Detection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Peripheral bloodTurnover Time:
4 weeksSTATIM
1 weekFragile X syndrome – detection of CGG repeat expansion in the FMR1 gene
The testing is performed to determine the presence and extent of CGG triplet expansion in the IT15 region of the FMR1 gene.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekFragile X syndrome – detection of CGG repeat expansion in the FMR1 gene
The testing is performed to determine the presence and extent of CGG triplet expansion in the IT15 region of the FMR1 gene.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysDetection 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 weekFoetal karyotyping from CVS
Foetal karyotyping from chorionic villi to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.