Genetic examinations list
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Cancer panel CZECANCA
Testing for congenital predisposition to certain tumour types is performed by examination of exome data (WES) by CZECANCA virtual cancer panel of genes.
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 weeksSTATIM
3 weeksPredictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysRNA 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 monthsClinical exome (WES)
NGS analysis of exome and other clinically relevant regions of the patient’s genome.
We recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis. For trio analysis, order following test for parents together with this test: Clinical exome – blood relatives proband.
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 monthsSTATIM
1 monthClinical exome (WES) – blood relatives
DNA testing of relatives using exome sequencing method to determine causal variants responsible for patient phenotype (duo/trio analysis).
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 monthsSTATIM
1 monthKaryotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.