Recessive genes as recommended by American College of Obstetricians and Gynecologists
The genetic test is used to investigate whether there is a risk of having a child with an inherited genetic disease. Hereditary diseases are 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 variants without being aware of them.
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.
Spinal Muscular Atrophy.
Cystic Fibrosis.
Different Lysosomal Diseases.
Reference: https://www.orpha.net/consor/cgi-bin/index.php?lng=EN
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.
Genes2Life test is best used to screen for couple 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 couples before starting a family.
The Genes2Life panel is based on the recommendations set by the American College of Obstetricians and Gynecologists.
Reference: https://pubmed.ncbi.nlm.nih.gov/28697118/
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 Genes2Life 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.
