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To contact the Biomédica Department of Sistemas Genómicos please go to Biomédica
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If you wish to contact the Web Manager please go to the Webmaster
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Studying Genetic Infertility
The origin of a certain percentage of infertility is unknown (idiopathic). Although some genetic alterations are directly associated with infertility, there is no information regarding to what extent genetic causes can explain this type of infertility.
At the Reproductive Genetics Unit we have developed a series of studies for the diagnosis of these alterations in both women and men.
If there is any clinical suspect regarding another disease, you can ask for information on this case using our
support form:
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Genetic Infertility |
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Clinical Evidence
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Genetic Study
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Female Infertility
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Repeat abortions
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- Karyotype in peripheral blood
- Karyotype of the abortus
- FISH analysis on abortion specimens (13,15,16,18,21,22,X,Y).
- a-Talasemia
- Trombophilia:
- Factor V Deficiency (Leiden)
- Hyperthrombinaemia Detection of mutation 20210G>A in the F2 (Factor 2 ) gene
- C677T mutation of the MTHFR gene
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Premature Ovarian Failure
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- Fragile X syndrome
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Hypogonadism, hypergonadotropic, amenorrhea, ovarian failure
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- Karyotype in peripheral blood
- Y Chromosome Microdeletions
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Male Infertility
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Non-obstructive azoospermia
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- Karyotype in peripheral blood
- Y Chromosome Microdeletions
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Congenital bilateral agenesis of the vas deferens
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- Analysis of cystic fibrosis mutations (CFTR gene)
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Hypogonadism, gynecomastia, cryptorchidism, hypospadia |
- Karyotype in peripheral blood
- Genetic diagnosis of Specific Diseases
(Support form)
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Altered seminal parameters and normal karyotypes |
- Sperm-FISH analysis (13,18,21,X,Y)
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Downloading analysis application forms and informed consent forms
All samples sent to Sistemas Genómicos must be attached to an application form and informed consent form. Download the updated version of each document.
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