Patients
Learn about the different types of genetic studies that we offer you and the steps to perform them.
Importance of genetic diagnosis
A genetic study is a test that analyzes DNA and is performed to identify possible changes or variations that could be related to the development of diseases. These studies provide relevant information for the diagnosis, treatment and prevention of diseases.
The performance of a genetic study is indicated in the following cases:
- To confirm or rule out a diagnosis in a person presenting symptoms of a genetic disease.
- In people with a family history or children with a genetic disease.
- In couples who plan to have children and want to know if they have a high risk of transmitting genetic diseases.
- In some cases, to personalize and select the most appropriate treatment for a specific disease, such as some types of cancer.
Catalog of genetic studies
Available tests
Targeted Exoma
Studies targeting a specific set of genes related to the suspected pathology or for which diagnostic confirmation is needed
Clinical exome
Analysis of the coding regions of more than 6,000 clinically relevant genes according to OMIM, HGMD and HPO reference databases, among others.
Complete exome
It involves the sequencing and analysis of all coding genomic regions of more than 20,000 genes. Indicated in cases not resolved with more specific studies.
Exoma trio
Study in the patient and his or her progenitors. This strategy increases the diagnostic yield compared to the study in the index case only.
Possible results
Positive
A pathogenic or probably pathogenic variant is identified.
This result confirms the diagnostic suspicion of the disease or a greater predisposition to its development.
In some cases, the presence of such variants does not determine with complete certainty the occurrence of the disease and the associated risk must be assessed on a patient-specific basis.
Negative
NO Pathogenic or Probably Pathogenic variant is identified.
This result indicates that the genetic cause of the suspected disease in the patient has not been identified or that the risk of developing a certain disease is low, although it is not possible to rule out its occurrence with complete certainty.
Likewise, a negative result does not rule out the presence of other genetic alterations not analyzed in the study performed.
Uncertain
A VUS variant associated with the disease is identified.
Indicates the presence of a variant of Uncertain Clinical Significance (VUS) that could explain all or part of the patient's symptoms.
In some cases, these results require additional studies to confirm or rule out the association of the identified variant with the disease presented by the patient, which must be evaluated on a case-by-case basis.
Genetic counselling
Before undergoing any genetic testing, it is necessary to have a geneticist help you understand which tests might be beneficial for you and your family members.
In order to correctly interpret the results obtained and their clinical implications, it is necessary to know the patient's clinical and family history, as well as the information provided by other medical and/or laboratory tests.
Likewise, it should be a geneticist, within a genetic counseling consultation, who should inform you of the implications that the variant identified in the study may have on your health and that of other members of your family, and what are the appropriate measures to take.
Steps to perform a study
01
Initial counseling
Our geneticists will inform you about the implications of the genetic study to be performed and the results that can be obtained.
02
Sample collection
It can be done in one of our centers or by means of a saliva kit that we send to your home.
03
Genetic analysis
Once the sample arrives at our laboratory, we carry out the genetic analysis and the interpretation of the results obtained.
04
Report and consultation
We explain the results of your study in a post-analysis genetic counseling consultation in which we solve any doubts that may arise.
Preventive genetic studies
A preventive genetic study is a test that analyzes DNA to determine a person's genetic predisposition to suffer from different hereditary diseases.
Our preventive tests can be performed by any healthy person who is concerned about the care of their health and that of their family members, although they are indicated in the following cases:
- People with a family history of hereditary cardiovascular disease.
- People with a family history of hereditary cancer.
- Anyone who wants to know the risk of transmitting a genetic disease to their children.
Information brochures
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Any doubts? Contact our team of geneticists
Frequently Asked Questions
The genes included in our DG Preventive test have been selected based on clinical and scientific criteria based on the recommendations of the American College of Medical Genetics and Genomics (ACMG) and other scientific societies, such as the Spanish Society of Medical Oncology (SEOM), the American Heart Association (AHA), the American College of Obstetricians and Gynecologists (ACOG) and the Spanish Fertility Society (SEF).
If you are interested in taking one of our preventive tests, the first thing you have to do is to contact us through our contact form, in the "Genetics" tab, or by phone at 613 031 849 to speak directly with our Clinical Genetics Manager, Dr. Leyre Larzabal. If you prefer, you can also write us a WhatsApp to the same number and we will contact you.
Once you have spoken with one of our geneticists, we will send you the sample collection kit to your home address. Inside the kit you will find a sheet with detailed instructions on how to collect the saliva sample correctly. If you wish, you can download this document at the following link.
The tube where you should add the saliva contains one milliliter of preservative. Remember to invert it several times after collection so that the saliva mixes well with the preservative.
Together with the saliva sample it is necessary that you send us the request form and the informed consent form that you will find inside the kit, completed and signed. These two documents are essential to carry out the analysis.
Both the request form and the sample collection instruction sheet contain the instructions to follow so that you can send the sample to our laboratory for analysis by MRW carrier. To do this, you must use the white envelope included in the kit. This shipment is free of charge for you.
Once we receive the sample in our laboratory we will start the analysis and within approximately 30 working days our geneticists will contact you again to give you the genetic report and perform the post-analysis counseling consultation, in which they will explain the results obtained and resolve any doubts you may have.
Knowing the predisposition to diseases of genetic origin allows to establish preventive or detection strategies in very early or pre-symptomatic stages, allowing a more effective treatment. Our DG Preventive tests provide very useful information to adopt the necessary measures in each case.
Cancer is the second leading cause of death in the world and it is known that in up to 15% of cases there is a hereditary component. Epidemiological data demonstrate the importance of early diagnosis for patient survival. Thus, colorectal cancer and breast cancer, for example, have five-year survival rates of 14% and 24%, respectively, when diagnosed at stage IV, but this rises to 90% and 98% when diagnosed at stage I.
DG Preventive Cancer can help identify individuals with mutations in genes associated with the development of hereditary cancer, which would allow early implementation of the necessary preventive and follow-up measures.
Unlike diagnostic genetic studies, in preventive studies there are two possible outcomes:
- Positive: A pathogenic or probably pathogenic variant is identified, indicating the presence of the associated disease or a greater predisposition to its development.
- A Negative result indicates that no Pathogenic or Probably Pathogenic variant has been identified in the set of genes analyzed.