Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
QF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Rapid diagnostic testing of prenatal samples is used to determine aneuploidy of chromosomes 13, 18, 21 and sex chromosomes by QF-PCR.
Material:
Chorionic villi, Amniotic fluid …STATIM
2 daysTesting 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 daysQF-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 weekClinical foetal exome (WES) (proband)
NGS analysis of exome (WES) and other clinically relevant regions of the foetal genome; we recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
6 monthsSTATIM
1 monthCascade 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.