Genetic test as a kind of genetic examination
During the genetic test, samples of different biomaterial are examined.The purpose of laboratory testing is the analysis of chromosomes( including their number and location).
DNA testing is used to diagnose genetic pathologies, establish the characteristics of a person to transmit a certain pathology, and obtain information about the severity of the disease.Table of contents: Investigated biomaterial Why is genetic analysis performed?Preparation for the test How is the genetic test performed?How painful are the tests?Possible risks of genetic research General recommendations for conducting a genetic test Norm What should you remember when preparing to take a test?Results of genetic tests
As the material for the study can be used:
- fragments of the patient's soft tissues.
Each person inherits 50% of the genes from the mother and 50% from the father.Individual genes, as well as their possible combinations, determine the genotype and the human phenotype.Among them - the color of the eyes and hair, the group membership of the blood, as well as the possible risk of a disease that can be inherited.
Important: individual pathological changes at the level of chromosomes or individual genes may sooner or later cause problems with the patient's health - at times, very serious and intractable.
Why is genetic analysis performed?
Genetic analysis has several objectives:
- compiling a family history of certain pathologies.Having this information, and having consulted with a geneticist, the couple can make an objective decision about the feasibility of conception;
- establishing a genetic predisposition to Hattington's disease and breast cancer in the mother;
- diagnosis of some pathologies of fetal development.During prenatal testing, in particular, Down syndrome can be detected;
- establishment of metabolic dysfunctions( in particular - phenylketonuria).The received information allows to formulate the optimal treatment tactics;
- carrying out paternity examination;
- establishing a genetic predisposition to the development of HIV and various types of cancer.
Preparation for the
test The genetic test does not require any special preparation.In the first place, it is advisable to consult a district therapist.The doctor will warn you in advance of all possible risks associated with testing.
After the results of the analysis are ready, you may need an extended consultation with a geneticist.It will help to understand how high the risk of developing pathologies, predisposition to which is revealed during the genetic test.
How is the genetic test performed?
Most often, blood is collected.
In adults, blood is taken from the vein.The arm at the shoulder level is pulled by a tourniquet, and the needle insertion site is thoroughly wiped with a 70% solution of medical ethanol.Then, the needle is inserted, to which a container for collecting the material is inserted.At the end of the procedure, the needle is removed, and the puncture site is thoroughly treated with alcohol.
Important: in children, the blood is taken from the heel, not from the vein, but from the heel!
To collect a sample of fetal cells for a genetic test, an amniocentesis procedure is performed, presupposing a puncture of the fetal bladder.You may also need to take a sample of a villous chorion.
How painful are the tests?
The patient may experience some discomfort if, as a material for the study, he takes blood from the vein.Soreness in this case directly depends on the qualification of the medical worker.
Collection of materials such as sperm, saliva or urine for a genetic test with unpleasant sensations are not related.
Possible risks of genetic research
If blood is taken from a child from the heel, then a small bruise and swelling may persist for a while at the puncture site.
Important: after a vein puncture may also form a swelling.In the event that the patient took Warfarin or similar pharmacological agents, development of bleeding from a damaged vessel is not excluded.
Obtaining DNA from saliva or semen is not associated with any risk while observing aseptic and antiseptic rules.
General recommendations for carrying out the genetic test
The data obtained in the course of medical research can have a certain impact on your life and the life of your loved ones.
In the event that you report information on the predisposition or the presence of certain diseases, this may well be the cause of the development of a depressed state.It is possible that you and your family will need the help of a qualified psychologist.
On the other hand, timely information about the threat will help to start timely and adequate treatment, preventing serious manifestations of the disease.
Identifying a genetic anomaly in an unborn child will allow parents to make a well-considered decision about maintaining a pregnancy.If there is a possibility of complicated delivery, the results of genetic research can convince a woman to turn to the perinatal center in a timely manner and not to give birth at home.
Important: The genetic test is a fairly expensive medical procedure, so patients have to contact the services of insurance companies.Many worry that their data will be accessed by third parties, but this is completely wrong.The results of genetic examination fall under the notion of "medical secret".
The norm for the conduct of a genetic study is the absence of mutations.
What should I remember while preparing to pass the test?
If blood transfusion has been performed less than a week before the test( blood transfusion patients), some distortion of the results is possible.
The results of the tests performed are strictly confidential information, access to which can only be available to you and your PCP( genetic specialist).
Important: It is often enough to test a DNA test to confirm or disprove paternity.It should be borne in mind that these data may become unexpected in the genetic test for another reason!
Genetic test results
A timely embryonic DNA test with high probability may reveal a significant intrauterine pathology.You need to be prepared, that the disease will change the life of your entire family.
The genetic test often helps to identify a patient's susceptibility to such diseases as addiction, hypertension, ischemia, asthma, prostate cancer, lung cancer.
Karyotypic studies, allow to determine the shape and number of chromosomes.Some of the abnormalities identified in the genetic test may influence further growth and development.
With the help of a unique genetic test, the BRCA reveals a predisposition to malignant breast tumors.
DNA-genotypescopy is widely used to establish paternity and the identification of bodies.This technique is the most perfect from the point of view of the study of biological material.DNA-genotypescopy is much more informative than dactyloscopy, the recording of a dental formula, or the study of blood group membership.
Vladimir Plisov, medical reviewer