Genetic examinations list
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Cascade 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.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekDetection of deletions in genes associated with hearing impairment
Testing for STRC, OTOA, CATSPER2 gene duplication/deletion by Multiplex Ligation-dependent Probe Amplification (MLPA), responsible for hearing impairment: DFNB16, DFNB22.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysDetermination of TPMT mutation status, allele *1, *2, *3A, *3B, *3C (mutations c.238G>C, c.460G>A and c.719A>G)
TPMT gene testing is performed by PCR and reverse hybridization strip assay to detect *1, *2, *3A, *3B, *3C alleles (c.238G>C, c.460G>A and c.719A>G mutations), which are responsible for the reduced activity of this enzyme catalyzing components of thiopurine drugs used in cancer therapy.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysDetermination of NUDT15 gene mutation status, allele *1, *2, *3, *4, *5 (mutation c. 415C>T, c. 416 G>A and c.52G>A)
NUDT15 gene testing by real-time PCR is performed to detect NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, and NUDT15*5 alleles (c. 415C>T, c. 416G>A, and c.52G>A), which are involved in the metabolism of thiopurine drugs.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekDNA sperm fragmentation test (Halosperm)
Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.
Material:
EjaculateTurnover Time:
1 dayCystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene
Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.