Recessive genes as recommended by American College of Obstetricians and Gynecologists
Before starting a family, it’s important to understand the genetic risks that might affect your future children. Both men and women can unknowingly be healthy carriers of genetic mutations that could lead to inherited diseases, even if they don’t show any symptoms themselves. The Genes4Life test provides valuable insight into these risks, offering a proactive approach to family planning.
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.
Genes4Life is a comprehensive genetic test that looks for potential inherited conditions by examining 428 genes linked to rare diseases, many of which are passed down through recessive inheritance. This test evaluates both high-prevalence diseases—those that are more common and treatable—and low-prevalence diseases, which are less common but still important to identify. The panel covers over 100 high-prevalence conditions and more than 400 low-prevalence diseases.
Additionally, the Genes4Life test includes both the Genes2Life and X-Linked Carrier tests, which help assess specific genetic risks related to X-linked disorders, often important for families planning pregnancies.
It is also important to highligh a high prevalence of the diseases in order to avoid them.
Genetic diseases: Juvenile amyotrophic lateral sclerosis.
Statistics: the prevalence and incidence of JALS are not known. A small number of cases have been reported to date. The disorder has been described in various ethnic groups.
Genetic diseases: Bloom syndrome.
Statistics: Bloom syndrome (BSYN) overall prevalence is unknown. Ashkenazi Jewish population is estimated at approximately 1/48000 births.
Genetic diseases: Triple-A syndrome.
Statistics: Prevalence is unknown but less than 100 cases have been published since the first description in 1978.
Reference: https://www.orpha.net/consor/cgi-bin/index.php?lng=EN
Genetic diseases: Spinal muscular atrophy.
Statistics: 1 in 6000-10000 children are born with the disease. In the United Kingdom, approx. 2000-2500 children and adults with SMA.
Genetic diseases: Cystic fibrosis
Statistics: 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.
Genetic diseases: Lysosomal diseases such as Tay-Sachs, Sandhoffs, Niemann, Gauchers, Mannosidose, Fukosidose, Sialidose, Hurlers, Hunter, Sanfilippos, Morquios, I-cell, Cystinose, Sallas, Wolmans.
Statistics: Approx. 70 different lysosomal diseases. Each of these is very rare, but as a group, they affect about 1 in 5000-8000 newborns. Every year, about 10 children are born with one of these diagnoses in Denmark.
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.
Genes4Life test is best used to screen for partner compatibility. By screening both parents, the test can ensure that no two copies of the same disease-causing gene are present. This is especially useful for parents when selecting donors for fertility treatment.
The Genes4Life panel includes both the Genes2Life and X-Linked Carrier test genes as well as many others. The panel is regularly updated according to the newest recommendations and knowledge obtained in the field of genetic diseases.
Genetic variants are evaluated according to the ACMG guidelines. Based on the evaluation, variants are classified into five classes:
All variants are evaluated based on current knowledge, and interpretation may change as new information becomes available.
The analysis is limited to protein coding regions and 10 bp from the exon-intron boundaries including splice sites of the genes within the Genes4Life panel. Non-coding regions, 5´-UTR, 3´-UTR, and promoter regions will not be analyzed, nor will large rearrangements, duplications, and insertions. Associations between genotype and phenotype are reported only as relevant to the indication for choosing the selected panel; some of the genes on the current panel may be involved in phenotypes not stated in the report.
