Genetic examinations list
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Testing 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
Turnover Time:
3 weeksSTATIM
3 daysTesting for the most common CHRNE gene mutation (exons 11 and 12, 1267delG mutation) – congenital myasthenic syndrome (CMS)
Testing for the most common CHRNE gene mutations (exons 11 and 12, 1267delG mutation) especially in the Roma ethnic group, associated with congenital myasthenic syndrome (CMS), 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
Turnover Time:
3 weeksSTATIM
1 weekQF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Testing for aneuploidy of chromosomes 13, 18, 21, X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid
Turnover Time:
1 weekSTATIM
2 daysTransfer of DNA aliquots after isolation for genetic testing outside GENNET
Transfer of DNA aliquots after isolation for genetic testing outside GNTlabs.
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