Genetic examinations list
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Karyotyping of the couple, preconception diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping of the patient, preconception diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping in gamete donation candidate
It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksBekhterev’s disease – HLA-B27 haplotype
The testing focuses on the detection of the HLA-B27 allele by real-time PCR in suspected ankylosing spondylitis (Bekhterev’s disease), reactive arthritis, juvenile rheumatoid arthritis or anterior uveitis.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, 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, DNA isolated from cultured cells