Genetic examinations list
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Sex
QF-PCR gender testing
Testing for sex chromosomes X and Y by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekSmith-Lemli-Opitz syndrome – detection of the 3 most common mutations in the DHCR7 gene (p.Trp151Ter, p.Val326Leu and c.964-1G>C)
Screening of the 3 most common DHCR7 gene mutations: c.452G>A (p.Trp151Ter), c.976G>T (p.Val326Leu), c.964-1G>C (IVS8-1G>C) using Sanger sequencing, which represent about 81% of all mutations in patients with SLOS (Smith-Lemli-Opitz syndrome, OMIM 270400).
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
3 weeksSTATIM
1 weekCascade testing of the product of conception (by QF-PCR methods) excluding maternal contamination
Cascade aneuploidy testing of aborted foetal tissue using QF-PCR, arrays or karyotyping; excluding maternal contamination.
Material:
Conception product, DNA from the product of conceptionTurnover Time:
3 weeksTesting for maternal contamination of the conception
Testing for maternal contamination of aborted foetal tissue by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksRNA analysis of selected mutations
Complementary RNA analysis to the result obtained from testing for congenital predisposition to certain tumour types by CZECANCA cancer panel.
Material:
Peripheral blood RNATurnover Time:
3 monthsTesting 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.