Genetic examinations list
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Testing 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 daysTesting for maternal contamination of the conception
Testing for maternal contamination of aborted foetal tissue by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksTesting for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly
Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysTesting for the most common CHRNE gene mutation (exons 11 and 12, 1267delG mutation) – congenital myasthenic syndrome (CMS)
Testing for the most common CHRNE gene mutations (exons 11 and 12, 1267delG mutation) especially in the Roma ethnic group, associated with congenital myasthenic syndrome (CMS), by Sanger sequencing.
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.