Genetic examinations list
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Testing for acquired chromosomal aberrations
The testing is used to determine the frequency of acquired chromosomal aberrations in peripheral blood lymphocytes.
Material:
Peripheral bloodTurnover Time:
2-8 weeksMicrodeletion 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 weekTesting for maternal contamination
Testing of maternal contamination of material after collection by invasive techniques, using QF-PCR.
Material:
Peripheral blood, Isolated DNA from bloodSTATIM
2 daysTesting for maternal contamination of the conception
Testing for maternal contamination of aborted foetal tissue by QF-PCR.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood
Turnover Time:
3 weeksTesting for acquired chromosomal aberrations
Karyotyping to determine the level of chromosome damage in peripheral blood lymphocytes.
Material:
Peripheral bloodTurnover Time:
2-8 weeksTesting for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly
Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.
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, Cultured cells