Genetic examinations list
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Cystic 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.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekCystic 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.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysCascade prenatal testing (by QF-PCR, array) excluding maternal contamination
Cascade aneuploidy testing of material after invasive prenatal examination using QF-PCR and array methods, excluding maternal contamination. This can be supplemented by foetal karyotyping, if necessary.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
3 weeksCascade testing of the product of conception (by QF-PCR methods) excluding maternal contamination
Cascade aneuploidy testing of aborted foetal tissue using QF-PCR, arrays or karyotyping; excluding maternal contamination.
Material:
Conception product, DNA from the product of conceptionTurnover Time:
3 weeksSOD1 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.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekPABPN1 gene testing (exon 1) – oculopharyngeal muscular dystrophy (OPMD) – familial AD
PCR amplification and sequencing of PABPN1 gene (associated with oculopharyngeal muscular dystrophy) to detect GCG triplet expansion.