Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
Response to hormonal stimulation – Ser680Asn polymorphism in the 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.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekResponse 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.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysANXA5 gene M2 haplotype
Determination of risk M2 haplotype in the ANXA5 gene by diagnostics of four variants in the regulatory region of the ANXA5gene (rs112782763, rs28717001, rs28651243 and rs113588187) by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysRNA analysis of selected mutations
Complementary RNA analysis to the result obtained from testing for congenital predisposition to certain tumour types by CZECANCA cancer panel.
Material:
Peripheral blood RNATurnover Time:
3 monthsSOD1 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.