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 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 monthCascade testing for GJB2 gene mutation (for Connexin 26) – early non-syndromic AR deafness
Testing for GJB2 gene mutations (gap junction beta 2) responsible for hereditary autosomal recessive disease, early non-syndromic disorder/hearing loss and deafness, also referred to as DFNB1.