Sperm donor screening is a basic genetic test for individuals wishing to donate sperm for use in assisted pregnancy treatments. The test screens for genetic mutations associated with prevalent recessive diseases. As some genetic mutations are specific to some ethnic groups, Amplexa offers tailored sperm donor screening panels beyond the standard panel. These tailored panels consider the genetic mutations specific for each ethnic group. Thus, the test is individual, and the specific genes and number of genes screened may vary from case to case.
This screening provides crucial knowledge in any risks associated with using the donor for future fertility treatment. Knowing the underlying genetic risks of a potential donor can help the clinic make informed decisions and exclude potential risk factors from the donor program.
Hereditary diseases are inherited through genetic material, from one generation to the next. In some cases, conditions can “skip” one generation and be inherited in the next; this happens in diseases with recessive inheritance. Recessive inheritance means that a person can carry disease-related mutations without being aware of them.
RECESSIVE GENETIC DISEASETwo copies of the same mutated gene, one in the woman and one in the man, cause the disease.
OUR RESULTS:5 out of 100 donor candidates analyzed in Amplexa with Donor screening tests were disqualified as donors.
- Donor screening test for Jewish and French-Canadian sperm donors
- A whole-exome sequencing of sperm donors, including analysis of the entire coding regions and additionally the exon-intron boundaries to ensure the analysis includes potential mutations in the splice sites. Thus, the test is not merely a single nucleotide polymorphism (SNP) analysis, but a true whole-exome analysis.
- Interpretations of sequence variants following the standards and guidelines set by the American College of Medical Genetics and Genomics as well as the Association for Molecular Pathology. Based on these, Amplexa Genetics A/S reports following disease classes:
- Class 4 -Probably pathogenic
- Class 5 - Pathogenic
- Agene-panel approach which includes a complete gene analysis of all relevant genes and their adjacent splice sites. Because of the gene-panel approach, we can not guarantee later analysis in case of any adverse events.