SPERM DONOR
Sperm donor screening is an essential genetic test for new donors
SPERM DONOR
We want to be mothers with the help from a sperm donor.
SPERM DONOR SCREENING
Sperm donor screening is a basic genetic test that allows a man to become a qualified donor at a sperm bank.
Highlights
- The sperm donor screening test provides crucial knowledge on any risks associated with using the donor for future fertility treatment.
- The test screens for genetic mutations associated with prevalent recessive diseases.
- Sperm donor screening is a tailored test that focuses on the most common genetic diseases within an ethnic group.
Sperm Donor Screening
Sperm donor screening is a fundamental genetic test for donors. If a donor candidate has a mutation in one of the genes analyzed, the candidate cannot become a donor.
The test analyzes genetic mutations in genes responsible for rare diseases with a recessive mode of inheritance. Genes are selected according to the ethnic origin of the donor and the prevalence of rare diseases in the ethnic group; therefore, the number of genes analyzed may change.
Can a healthy man transmit a genetic disease?
Anybody can be a healthy carrier of a mutation without knowing. If the man and the woman are carrying a disease-causing mutation, there is a risk of passing it on to the next generation and then the child will be sick.
Is the risk lower when selecting a family member as a donor?
Using a family member as a donor does not reduce the risk. The risk is due to hereditary diseases inherited through genetic material from one generation to the next. In most cases, families are unaware that there are carriers among them and then conditions suddenly appear in the family; this happens in disorders with recessive inheritance.
Recessive inheritance means that a person can carry disease-related mutations without being aware.
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 commonly studied genes and associated diseases.
- Spinal muscular atrophy, Gene: SMN1.
- Cystic fibrosis, Gene: CFTR.
- Non-syndromic genetic deafness, Genes: GJB2, GJB6 (DFNB1)
- Tay- Sachs, Gene: HEXA.
Some genetic mutations are specific to some ethnic groups. Amplexa offer tailored test with specific genes for each ethnic group.
The test is individual and the number of genes screened may vary from case to case.
How to do the test?
To do the test, a sample of saliva or blood is necessary. To collect the saliva sample, we will send a sample collection kit with instructions for collecting the sample, and shipping instructions for sending the sample to Amplexa Genetics.
You can expect a response no later than four weeks after we have received your sample.
THE ANALYSIS
Sperm Donor Screening investigates genetic mutations associated with prevalent recessive diseases. The test provides crucial knowledge about any risks associated with using the donor for 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.
Amplexa Offers:
- A tailored test focused on the most common genetic diseases within an ethnic group. Therefore, the test is individual: genes and the number of genes examined may vary depending on the donor's ethnic origin.
- A genetic analysis for Jewish and French-Canadian sperm donors. This test studies the most relevant variants within this ethnic group.
- 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.
- A gene-panel approach includes a complete gene analysis of all relevant genes and their adjacent splice sites.
Evaluation
Genetic variants are evaluated according to the ACMG guidelines. Based on the evaluation, variants are classified into five classes:
- Class I: Benign
- Class II: Likely benign
- Class III: Uncertain significance
- Class IV: Likely pathogenic
- Class V: Pathogenic
Classification of reported variants
- Class IV
- Class V
All variants are evaluated based on current knowledge, and interpretation may change as new information becomes available.
To learn more about how Sperm Donor Screening can assist your donor program, please contact one of our experts for more information.
