Male Factor Infertility targeted mutation analysis

Genes: CFTR, DDX25, DNAH5, DNAH11, DNAI1, ESR2, FSHB, GNRHR, INSL3, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, RXFP2, TEKT2, USP26, UTP14C
47XXY
AZF deletions

No of
detectable
markers:
291 (DNA microarray)
8 (PCR-based test for Y-chromosome deletions)

Lab method: DNA microarray (APEX – Arrayed Primer EXtension), PCR

Price / TAT: Complex MFI test: 492 EUR / 2-4 weeks
Klinefelter syndrome from blood: 87 EUR / 2-4 weeks
Klinefelter syndrome from buccal cells: 87 EUR / 2-4 weeks
Y-chromosome deletions: 87 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Buccal cell sample for assessment of mosaicism in patients with Klinefelter syndrome


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

    1. Confirmation of suspected diagnosis
    2. Reasons other than genetic have been ruled out (environment and lifestyle related reasons, medical reasons that include hormone imbalance, infections, varicocele)
    3. Patient’s phenotype is indicative of a syndrome or condition associated with genetic male infertility (for example, small testicles and lower testosterone levels in case of Klinefelter syndrome)

Infertility is a widespread medical problem, affecting the lives of 15–20% of couples, with male factor infertility (MFI) occurring in almost half of the cases. The unfavourable genetic background is thought to be the cause in 15–30% of male factor infertility cases.

The MFI-APEX (arrayed primer extension) assay in combination with a PCR-based test for detecting Y-chromosome deletions enables simultaneous analysis of the most prevalent genetic factors causing male infertility, such as Klinefelter syndrome; AZF-microdeletions; mutations in the CFTR genecryptorchidism (INSL3, RXFP2), hypogonadism (GNRHR) and spermatogenic failure linked genes (DDX25, DNAH5, DNAH11, DNAI1, ESR2, FSHB, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C).

Level of mosaicism less than 25% of 47,XXY/46,XY cannot be detected by the test. The degree of mosaicism differs among tissues, and if mosaicism is suspected, additional analysis of buccal cell sample is recommended for better ascertainment of mosaicism in patients with Klinefelter syndrome.

The correct determination of the genetic basis of infertility is important for the further treatment of patients. Furthermore, MFI testing is strongly recommended before a couple undergoes assisted reproduction in order to prevent the possible inheritance of the genetic lesion to the next generation.