Genetic examinations list
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Fragile 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 daysExamination 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 …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 weeksExpert paternity test by court order
Expert paternity test by court order. The material is collected in the presence of a forensic expert and the results are provided with an expert opinion. The results of this test are intended for use in legal proceedings.
Material:
Peripheral blood, Buccal swabFamilial hypercholesterolaemia – FH test
Testing for familial hypercholesterolaemia (FH) using SNP array.