Genetic examinations list
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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 weekCystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene
Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekMicrodeletion of Y chromosome – AZFa, AZFb, AZFc including SRY
Testing for microdeletions in the AZF (azoospermia factors) region of the Y chromosome (AZFa, AZFb, AZFc) by fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weSTATIM
1 weekDNA isolation and banking
DNA isolation and its storage in the laboratory (banking).
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Amniotic fluid, Cord blood, Conception product, Cultured cells, Solid tumour, Ejaculate, Isolated DNA from chorionic villi
Turnover Time:
48 hoursDNA disposal after testing
Disposal of isolated DNA after its testing.
Material:
Isolated DNA from blood, DNA from chorionic villi …
Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception