Donor screening tests can diagnose Spinal muscular atrophy
SPERM DONOR SCREENING
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 another. 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 DISEASE
Two copies of the same mutated gene, one in the woman and one in the man, cause the disease.
THESE ARE SOME OF THE GENES STUDIED AND THEIR HIGH ASSOCIATES
Related diseases: Spinal muscular atrophy. Genes: SMN1.
Statistics: 1 in 6000-10000 children are born with the disease. In the United Kingdom, approx. 2000-2500 children and adults with SMA. Related diseases: Cystic fibrosis. Genes: CFTR. Statistic: Approx. 1 in 30 people is a healthy carrier of cystic fibrosis without knowing it. In Denmark, 1-2 children are born with cystic fibrosis every month. This represents approx. 150000 people in Denmark. Related diseases: Non-syndromic genetic deafness. Genes: GJB2, GJB6 (DFNB1) Statistic: 60-80% of cases of early-onset hearing loss are of genetic origin. Between 1 in 1000 were born with profound and 1 in 700 with severe hearing loss. Related diseases: Tay- Sachs. Genes: HEXA. Statistics: The prevalence of the diseases is 1 case per 320000 live births. 100 times more common among Ashkenazi Jews, with the number of carriers being around 1 per 30.
5 out of 100 sperm donor candidates analyzed by Amplexa Genetics 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.
We recommend the test: