The qCarrier® Test
The qCarrier® is a laboratory test developed by qGenomics in collaboration with Dexeus, designed to determine the carrier status of more than 4.000 mutations that can cause more than 200 recessive genetic diseases with different impact on life quality of patients. This analysis is done by studying (capture and direct sequencing) specific genes of interest, using the most modern techniques of massive parallel sequencing (next generation sequencing - NGS).
Using NGS technology allows the specific analysis of a large number of known mutations in 138 genes (17 in the X chromosome), combined with whole-gene sequencing of 72 additional genes (2 in the X). In addition, it allows the detection of multiple types of mutations (single nucleotide, small in/dels, and certain copy number variants and balanced rearrangements ...). Mutations with specially high incidence in the Mediterranean area are included among the +200 disease-causing genes analyzed.
Genetics & Disease
The genetic information contained in the genome of any Human being is transmited from one generation to the next (from parents to offspring) and determines, in large measure, our physical appearance, since it controls the development of the different organs that make up our body. In addition, is also a source of errors that cause genetic diseases. This information is found within the 23 pairs of chromosomes, packaged in genes. We have 2 copies of each gene (also called alleles, inherited each one from our father and mother), and when they are altered (mutated) genetic disease can happen.
Autosomal recessive diseases occur when two mutated copies of a gene are inherited. This can only occur when both parents are carriers of a disease-causing mutation and, by chance, they transmit the bad allele to the offspring. Carriers of a genetic mutation causing a recessive disease are asymptomatic (do not show any symptoms of the disease) and, in fact, we are all carriers of recessive mutations in different genes, without presenting any clinical manifestation.
When both parents are carriers of recessive mutations in the same gene, there is a 25% chance that their offspring is affected by the disease, 50% chance of conceiving unaffected carriers, and 25% chance of conceiving a child free of parent’s mutations.
In the case of X-linked recessive diseases, the gene responsible for the disorder is located in this sexual chromosome. 50% of the offspring of a carrier mother will receive a mutated copy of the gene. The effects of this mutated copy are very different if the offspring is a male or a female. While male offspring receiving a mutated copy will be affected and fully manifest the disease, the female offspring will likely be assymptomatic carrier (because of the random X-inactivation process, some clinical manifestations can not be completely ruled out).
Who will benefit from using the qCarrier Test?
Since the qCarrier Test does not involve any health risk, any person/couple with reproductive plans can get tested to known its carrier status of recessive mutations causing over 200 genetic disorders. Even in the absence of affected relatives, this information can be helpful for a safer future pregnancy. This test can be helpful in the following situations:
- Couples undergoing reproductive assisted treatment (ART), that will have a better estimation of their risk of conceiving a child with a recessive disorder.
- Couples with reproductive plans, that now can know about their carrier status of recessive mutations and make informed and more responsible decisions towards a safer pregnancy.