Response to hormonal stimulation – Ser680Asn polymorphism in the FSHR gene

Test covered by the reimbursement:
Test without reimbursement:
Peripheral blood, Isolated DNA from blood
Turnover time:
3 weeks
1 week


Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

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.

Test details:

The FSHR gene encodes a protein called FSHr, which binds (acts as a receptor) the controlling hormone of the gonads – follicle stimulating hormone (FSH) – in ovarian and testicular cells. The binding ability of FSHr is influenced by a single-nucleotide polymorphism (SNP), which converts the amino acid serine (Ser) to asparagine (Asn) at the position of the 680 protein chain FSHr (Ser680Asn). FSHr deficiency is associated with the presence of the amino acid serine and is highest in Ser680Ser homozygotes with a frequency of 20% in the European population – it is associated with lower sensitivity of the FSH receptor to gonadotropins. Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) is performed by real-time PCR.