What is a hereditary disorder?
A hereditary disorder is a disease caused by a change in the DNA sequence of a causative gene with respect to the control sequence. This DNA change (mutation) has been inherited from our parents and can also be transmitted to our progeny.
What is a mutation?
Mutations are pathogenic changes in the DNA, that is variations in the sequence causing a disease. Genetic disorders can be caused by mutations in a single gene (monogenic disorders), multiple genes (digenic or oligogenic disorders), by a combination of gene mutations and environmental factors (multifactorial disorders or complex diseases), or by changes at the chromosomal level (affecting their number or structure).
How can genetic testing help me?
Genetic testing comprises the lab methodologies that allow to check the integrity and sequence of the genes. Genes are the DNA instructions, located on the chromosomes that you inherit from your biological parents (father and mother), which they in turn have inherited from their own parents (your grandparents). Genetic tests identify the mutation causing a genetic disorder in a family, highlighting other members who may be asymptomatic or presymptomatic carriers of the disease. Genetic testing is useful for molecular diagnosis, prognosis, prenatal and preimplantation genetic diagnosis and genetic counseling; and may help clinicians to choose efficient treatments when these are available.
Which pathologies are analyzed?
DBGen has deep experience in genetic diagnosis of inherited retinal dystrophies, either in cases where retinal degeneration appears as the main trait or when it is associated to syndromic disorders. We also perform the genetic testing of other monogenic ocular diseases, provided the responsible genes are known. Check the list with the more frequent genetically diagnosed pathologies here. Even if your pathology is not on the list, we encourage you to get in touch with us to see if we can offer genetic testing for you.
Will the genetic diagnosis tell me the type of inheritance of the disease in my family?
Before genetic testing, the geneticist at DBGen constructs an accurate pedigree of the family, and tries to infer the most probable type of inheritance of the disease in the family. Nonetheless, genetic testing allows the definite identification of the molecular basis of the disease, confirming the type of inheritance even in simplex cases (only one affected member in the family). Genetic test also reinforce diagnosis and guide clinicians in doubtful cases, and may even indicate the need for diagnostic re-evaluation.
Can the testing be performed at once in several family members?
Yes, the test can be performed in several individuals if the DNA is available for genetic testing. In fact, genetic diagnosis may be reinforced when several patients from the same family are diagnosed at once.
Once a patient has been diagnosed, can other members of the family know if they carry the same mutation?
Yes, once a mutation(s) has been identified, other members of the family can be diagnosed for the same mutation(s).
How can I know if the test will be helpful for me and my family?
Genetic test results can be difficult to understand for non-specialists, however the geneticists at DBGen will explain what the results mean to you and your family. Because genetic testing tells you about your DNA, it also has implications for other family members. Geneticists at DBGen will inform you about the benefits and restraints of a particular genetic test, and if it might be restricted to you only, or recommended to other family members. Also, clinicians may suggest a genetic test if the disease follows certain patterns of inheritance in your family. We help patients and families understand the scientific, emotional, and ethical factors behind genetic testing results, and how to address the outcomes of the tests.
Will the genetic testing inform me about the risk of the inheritance of the disease in my family?
The identification of the pathogenic mutation(s) will also help the rest of your family. Genetic diagnosis allows the identification of other family members that may not show the disease symptoms (if it is a late-onset disorder) or identify the carriers of the mutation.
How can I request a genetic test?
You will find all the information related to request a genetic test here.
Can I ask for the test from anywhere in the World?
Yes, you can order a test from anywhere in the word. We just need to coordinate with you for the shipping of the DNA sample.
How can I get in touch with DBGen?
You can send us an e-mail at email@example.com and we will get back to you shortly.
How much does it cost?
Prices vary depending on the type of test required and on the amount of sample/s that need to be analyzed. You can download the budget request file and check further instructions in the “order a test” page.
How long does the process take?
It depends on the test required but it typically ranges from 1 to 3 months.
How is my privacy protected?
Your DNA sequence not only tells about your genetic condition, but since it is shared with your siblings, parents and other members of the family, it also involves their genetic information. Therefore, DNA information requires maximum privacy. At DBGen we are concerned by bioethical standards and we offer privacy and confidentiality for your genetic results and other genetic data (incidental results) gathered from the analysis of your genome (WES, WGS), following the recommended bioethical tenets.
What do I do after/with the results?
The results of the genetic test may recommend several courses of action, since prevention, progression or efficient treatment of the disease is in many cases highly dependent on the accurate diagnosis, not only for yourself, but also for your family. We will guide you and inform your clinician if requested to take the proper steps to deal with the genetic findings.