Genetic examinations list
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C677T polymorphism in the MTHFR gene
Testing for C677T polymorphism in the MTHFR gene by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysANXA5 gene M2 haplotype
Determination of risk M2 haplotype in the ANXA5 gene by diagnostics of four variants in the regulatory region of the ANXA5gene (rs112782763, rs28717001, rs28651243 and rs113588187) by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysCancer 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 weeksClinical 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 monthSOD1 gene testing – familial amyotrophic lateral sclerosis (ALS)
Testing for all coding exons (1, 2, 3, 4, 5) including adjacent SOD1 gene intron sequences by Sanger sequencing.