Genetic examinations list

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AR deafness – detection of 35delG GJB2 mutation

Testing for 35delG mutation in the GJB2 gene responsible for AR hereditary, non-syndromic disorder/hearing loss (deafness).

more informations

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

3 days

Response to hormonal stimulation – Ser680Asn polymorphism in the FSHR FSHR gene

Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) by real-time PCR. This is aimed at investigating the Ser680Asn to Ser680Ser change that is associated with low sensitivity of FSHr to gonadotropins.

more informations

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

3 days