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.

more informations

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, DNA isolated from the product of conception, Isolated DNA from amniotic fluid

Turnover Time:

3 weeks

STATIM

3 days

Alpha-1-antitrypsin deficiency – PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles in the SERPINA1 gene

SERPINA1 gene testing using Sanger sequencing is performed to detect PI*Z (p.Glu366Lys) and PI*S (p. Glu288Val) alleles.

more informations

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid

Turnover Time:

3 weeks

STATIM

3 days