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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
 
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 disease
 
Two copies of the same mutated gene, one in the woman and one in the man, cause the disease.
 
 
HEREDITARY DISEASES
 

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.

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