Consultation with a geneticist to identify hereditary diseases

Every parent wants their child to be healthy and happy. And these concepts, as you know, are inseparable. Usually we focus on general recommendations and give the child advice in the spirit of “don’t eat a lot of sweets” and “don’t sit in front of the TV for a long time.” But each organism is unique and requires an individual approach.

To identify personal health characteristics, modern parents conduct a child’s DNA test. The study helps to create a detailed and complete picture of the baby’s health condition. Read more about genetic analysis and how it is carried out by the MyGenetics diagnostic center in the Daily Baby article.

Descriptions and main objectives of the study

“Genes are the material that contains all the information about an organism. If any disturbances occur in it, first of all, they occur in the structure of the genes. This is especially true for hereditary diseases,” comments pediatrician Kristina Kusochkova.

What benefits does genetic analysis provide and why does a child need it? To find out about the tendency to hereditary diseases, sensitivity to any medications and products, find out what type of physical activity, daily routine and type of nutrition is suitable for a particular child - all this helps to determine the child’s DNA test. The study identifies all risks and health features. A DNA aptitude test is also carried out. The gender of the child does not matter.

Why else is it worth conducting a genetic test for a child? The result you get will remain with the baby for many years, because genes do not change.

Mothers and fathers generally understand the determining role that genes play in the lives of their children. 

© MyGenetics

When can you do a DNA test for a child?

A DNA test can be performed at any age, including from the very birth of a child. The newborn actually does not notice the procedure, since it is very simple and painless: the doctor or parent runs a special stick along the inner surface of the cheek, then the cotton tip is broken off and dried.

Types of research

Full DNA analysis

A complete and detailed study that will show the child’s individual needs for certain nutrients and microelements, predisposition to diseases, risk of injury, innate athletic qualities and much more.

Based on these results, you can create a daily routine and diet that is suitable for the child, and select a sport in which he will successfully and organically develop.

The father can present the analysis for children to his family as a useful and necessary gift for any holiday. 

Test for genetic diseases

Today, DNA testing can identify more than 4,500 genetic diseases. Often parents want to find out whether there is a risk that their child will inherit some diseases from them. Thus, a test for cancer is recommended if there have been cases of cancer in the family. This will help identify risks and determine what to do to avoid illness.  

Cytogenetic analyzes

This type of analysis is used to diagnose various congenital and acquired diseases. Cytogenetic tests show whether there are changes in the chromosomal apparatus of cells: for example, whether there are abnormalities in the number of chromosomes.  

Molecular genetic tests

A more precise type of research. Specific DNA or RNA sequences are analyzed.

© MyGenetics

Indications for genetic testing of a child

Genetic analysis should be carried out not only if it is known about pathologies in the family that are inherited. The fact is that not all diseases appear immediately, or even appear at all. But experts recommend carrying out genetic analysis regardless of the diseases that relatives suffer from.  

Doctor Kristina Kusochkova confirms: “A genetic test provides complete information about a person. On the one hand, this is a huge plus for pediatricians and general practitioners. The doctor will know in which direction to work, what to pay attention to first, and will correctly formulate advice on preventive measures.

On the other hand, mothers sometimes misinterpret the test, begin to show overprotection, and control the child in everything that is not good. Therefore, consultation with a specialist after such a test is mandatory.

It is necessary to explain the results to the mother and correctly determine further tactics for preventive measures to prevent possible pathologies.”

Genetic analysis during pregnancy

Carrying out genetic analysis during pregnancy will allow future parents to make sure that the fetus is developing correctly. The test will reveal the presence or absence of genetic diseases in the baby.

By the way, if you conduct a genetic study while planning a pregnancy, you can avoid many problems with the health and development of the child. 

DNA test for embryo

Genetic analysis of the embryo is also carried out during IVF, even before the embryo is transferred into the uterine cavity. This helps to identify hereditary diseases.  

DNA analysis for newborns

An analysis for genetic diseases in a child allows us to identify pathologies at an early stage and predict the risk of developing certain diseases. It is worth doing it not so much if there are hereditary pathologies in the family, but rather in order to know which correct habits will have the best effect on the child’s health.  

The test will help doctors “catch” the slightest problems with the health of the newborn and begin correcting the diseases in time. A child’s blood test does not give such an accurate result. Pregnancy, as a rule, proceeds more predictably if genetic research is carried out during this period.

© MyGenetics

Research Features

As we said above, a DNA test is something that only needs to be done once. Its results will always be relevant, and the recommendations received can be used for decades.  

Thus, MyGenetics DNA analysis technologies are based on international research from Stanford University, data from NCBI (USA) and the European research consortium Food4Me.

Genes and their influence on the body

ADRB2 gene

This gene encodes a protein that, when in contact with adrenaline, can increase the rate of breakdown of sugars in tissues. In addition, it affects a person’s athletic potential—this gene can be used to determine factors in the development of endurance.

TCF7L2 gene

The gene encodes a protein that is involved in the formation of pancreatic beta cells - they, in turn, take part in the secretion of insulin, which is necessary to reduce blood glucose levels.

A less favorable variant of the gene disrupts insulin production in response to increased blood glucose levels. This increases the risk of developing type 2 diabetes. Therefore, it is important to know which gene variant you have.

FTO 

The FTO gene is called the “obesity gene.” Those with an unfavorable variant of this gene have a 1.7 times higher risk of obesity compared to other people. According to experts, the FTO gene increases cravings for high-calorie foods and reduces the feeling of fullness after eating.

Therefore, it is extremely important to know whether a person is a carrier of this gene and, accordingly, whether he has a predisposition to gaining excess weight.

This information will help you create the right diet and determine the optimal level of physical activity for a particular person. 

The FTO gene encodes a protein that regulates the production of satiety hormones and thereby affects the amount of food consumed. Polymorphism in this gene is associated with a delayed feeling of satiety and an increase in the amount of food consumed.

FABP2

Otherwise, the FABP2 gene is called the fatty acid transporter gene. This gene encodes a protein that binds fatty acids in the intestine and is responsible for their uptake, transport and metabolism. An unfavorable gene variant leads to increased digestibility of saturated fatty acids in the intestines and excess weight gain.

PPARG 

The PPARG gene encodes a protein involved in the utilization of fatty acids and glucose in muscle and adipose tissue. One form of the gene helps increase the rate of nutrient utilization. In addition, this gene affects the effectiveness of fasting days - a special mono-diet lasting 1-2 days, when a person gives his body a “rest” from the usual diet.  

Data decryption

Depending on the goals of the study, MyGenetics studies from 8 to 34 genes. Then the center’s nutritionists and nutritionists compile a detailed DNA report - from 31 to 62 pages, depending on the type of research chosen.

From the report the client learns: 

1. Prescribed diet. Nutritional recommendations and menu options selected for the child. The possible causes of excess weight and the risks of developing type 2 diabetes are also described.
2. Food intolerances. It is better to find out about your predisposition to gluten or lactose intolerance in advance, rather than through trial and error.
3. Vitamins: which microelements does your child need most?
4. Level of physical activity. What and how much physical activity does a child need for full development?
5. Sports potential. A person's innate athletic qualities are contained in his DNA. The analysis will help you choose the most suitable sport for your child, the one for which he has a genetic predisposition. The information gained will also help reduce the likelihood of sports injuries.

Deadlines for preparing results

Preparation of a personalized DNA report usually takes two weeks. Information that the report is ready and its PDF version are sent to the client by email.  

Price of genetic research

• The MyBaby DNA test for children under 12 years of age includes the study of 12 genes that are most important for the development of a child. Cost: 9900 rubles.
• The Wellness Study is more suitable for older children, but with a view to the future, it is also carried out on infants. Includes the study of 32 genes. Cost: 17900 rubles.

MyGenetics is a genetic test for children's development.

Read more

Source: https://dailybaby.ru/magazine/articles/analiz-na-genetiku-dlia-rebenka-zachem-on-nuzhen-i-chto-mogut-uznat-roditeli

A quick way to diagnose hereditary diseases in children has been found

MOSCOW, November 25 – RIA Novosti. Geneticists and scientists at the Scientific and Educational Center of the Medical Institute of Surgut State University (REC MI Surgut State University) have used a new technology that can reduce the time for making a genetic diagnosis of a severe hereditary disease - cystic fibrosis, the press service of the university reported.

Cystic fibrosis is a common hereditary disease caused by a genetic mutation, characterized by damage to the endocrine glands and severe dysfunction of the respiratory and digestive system. Without timely diagnosis, it is highly likely to lead to death.

Today, to identify hereditary diseases, all newborns undergo neonatal screening (biochemical examination of dried blood spots). The examination allows you to identify children at high risk of developing cystic fibrosis in the first months after birth.

However, to definitively confirm the diagnosis, sequencing (determining the sequence of nucleotides in genes) is necessary. Currently, equipment for genetic research is available only in special federal centers.

“The development of new diagnostic methods is an extremely urgent task for the entire medical genetic service of Russia: this method can be used in almost any minimally equipped laboratory,” commented an expert in the field of genetic diagnostics, head of the department of genomic medicine at the Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Otta Andrey Glotov.

The analysis allows us to reduce the amount of genetic information that needs to be obtained to search for a mutation leading to the development of cystic fibrosis.

For example, if previously it was necessary to determine the nucleotide sequence of the entire gene, then using the new technique the volume of sequencing has decreased by 90%.

The procedure for making a genetic diagnosis has been reduced to 3-4 working days, which is radically different from the 2-3 months of waiting for research results from federal centers.

1 of 2

Maxim Donnikov, a researcher at the Research Center of the Medical Institute of Surgut State University, loads a prepared library of genetic material samples onto a new generation sequencer (NGS)

© Photo: press service of SurSU

2 of 2

Automatic pipettes for precise dosing of microvolumes of reagents used

© Photo: press service of SurSU

1 of 2

Maxim Donnikov, a researcher at the Research Center of the Medical Institute of Surgut State University, loads a prepared library of genetic material samples onto a new generation sequencer (NGS)

© Photo: press service of SurSU

2 of 2

Automatic pipettes for precise dosing of microvolumes of reagents used

© Photo: press service of SurSU

“Moreover, with some refinement, a similar method can be used to quickly diagnose other diseases in which the genetic nature is reliably confirmed, and the early start of treatment of which improves the patient’s prognosis (for example, phenylketonuria, adrenogenital syndrome),” said the professor, Head of the Department of Childhood Diseases, Surgu Medical Institute Vitaly Meshcheryakov.

Scientists noted that the entire scope of such research can now be carried out at the regional level on the basis of any genetic laboratory equipped with standard equipment (PCR amplifier and sequencer).

Source: https://ria.ru/20191125/1561542455.html

Why do you need consultation with a geneticist?

What does a geneticist do, and in what case should you turn to him for help? Let's try to figure it out.

Reason 1: preparing for pregnancy

In some countries, young spouses are already offered to have their karyotype (set of chromosomes) examined in advance in order to identify the presence of possible chromosomal rearrangements. If they are detected, then timely prenatal diagnosis will prevent the birth of an unhealthy child in this family.

The study of the human genome opens up prospects for the prevention of hereditary diseases, as it makes it possible to determine the carriage of pathological genes and genes for predisposition to various pathologies.

A clear example of active preventive work is the program carried out in the USA in the population of Ashkenazi Jews, in whom cases of the birth of children with amorotic Tay-Sachs idiocy were quite often recorded. This hereditary metabolic disease leads to severe damage to the nervous system and early death of the child.

Almost all representatives of this nationality in the United States are tested for carriage of this pathology. If both spouses are carriers of the disease gene, then a fetal examination is performed during pregnancy. As a result of these measures, children with Tay-Sachs disease have practically ceased to be born in the United States.

It is also necessary to contact a geneticist if the spouses are relatives, there are people in the family with hereditary diseases, or the couple has recurrent miscarriage.

Reason 2: a number of features of the course of pregnancy

When registering an expectant mother for pregnancy, the obstetrician-gynecologist must ask the woman about previous pregnancies, past illnesses, and how the pregnancy is progressing. Sometimes, already at this stage, the pregnant woman is referred for consultation with a geneticist.

• Indications and timing of genetic counseling during pregnancy
• — Hereditary disease in the family before conception
• — Birth of a previous child with developmental defects or chromosomal abnormalities before 9 weeks.
• — Presence of chromosomal rearrangements in one of the parents before 9 weeks.
• – Woman’s age over 35 years up to 9 weeks.

- Exposure to teratogens (medicines, infections, alcohol, drugs, etc.) up to 3 months of pregnancy up to 12 weeks.

Reason 3: ultrasound results

Already at 11–13 weeks of pregnancy, ultrasound scanning can diagnose some malformations and identify changes that may indicate the presence of a chromosomal pathology of the fetus.

For example, the presence of thickening of the nuchal zone in the fetus at 11–13 weeks of pregnancy can accompany chromosomal disorders, such as Down syndrome, as well as developmental defects.

Patients with such ultrasound results require a more thorough examination using methods that make it possible to obtain cells from the future placenta and accurately determine the child’s chromosome set.

The second planned ultrasound examination during pregnancy is carried out at 20–22 weeks. At this time, it is possible to determine most deviations in the development of the face and limbs, as well as to identify malformations of the internal organs of the fetus. At 30–32 weeks of pregnancy, ultrasound can be used to suspect fetal developmental delay and assess the state of blood flow.

Reason 4: biochemical test results

Pregnancy-associated protein (PAPP), human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) are special proteins that are produced by fetal tissues. Based on changes in the concentration of these proteins in the mother's blood, one can suspect chromosomal pathology and a number of malformations of the fetus, primarily in the anterior abdominal wall and nervous system.

A study of the level of biochemical markers in the blood of a pregnant woman is carried out at certain times. The level of pregnancy-associated protein and human chorionic gonadotropin is determined at 10–13 weeks of pregnancy, alpha-fetoprotein and human chorionic gonadotropin at 16–20 weeks.

If results are obtained outside the normal range, genetic consultation is necessary.

Reason 5: acute intrauterine infection

If you contract rubella before 12 weeks of pregnancy, the risk of pathology for the child is 70–80%. There are other infections that are dangerous to the body of the unborn child, for example, herpes, cytomegalovirus, toxoplasmosis. With an acute infection in a woman, especially in the first trimester of pregnancy, they can also affect the unborn child.

That is why such infections are often called intrauterine. It is advisable to conduct an examination for intrauterine infections before conception and in the first weeks of pregnancy, when it is still possible to prevent their effect on the fetus.

If a woman first encountered these viruses before 12 weeks of pregnancy, her obstetrician-gynecologist will definitely refer her to a geneticist.

5 MAIN STAGES OF MEDICAL-GENETIC COUNSELING

In order to understand what MGC is based on, it is necessary to dwell on the basic concepts of medical genetics. As you know, several parties are involved in the process of reproduction: mother, father, fetus. Moreover, genetic disorders can affect every participant in the reproductive process.

Genetic information transmitted from parents to offspring is contained in germ cells (gametes) - sperm and eggs. Disturbances in the process of formation and maturation of gametes can lead to a genetic imbalance in the embryo and fetus.

A serious genetic imbalance in the embryo in the vast majority of cases leads to arrest of development and rejection of the fertilized egg at very early stages of development (in the first days or hours after conception) and is not accompanied by a delay in menstruation or other signs of pregnancy.

A married couple can sometimes undergo years of examination and treatment for infertility or miscarriage, not suspecting that the main cause of reproductive dysfunction is genetic factors. Genetic disorders of the fetus also affect the course of pregnancy, which is usually unfavorable.

In some cases, genetic disorders in spouses lead to the absolute inability of sperm or eggs to conceive. Timely detection of such disorders makes it possible to choose alternative ways of treating infertility (the use of donor sperm or a donor egg).

A consultation with a geneticist begins with clarifying the diagnosis of a hereditary disease in the family, a detailed analysis of the family pedigree and building a family tree. If indicated, karyotyping of spouses is carried out (study of the chromosome set under a microscope).

Stage 1: Pedigree Study

This method of genetic research was first proposed in 1865 by the English scientist F. Galton. It is called the genealogical method of genetic research. Its essence lies in compiling a pedigree and its subsequent analysis.

After collecting information, a graphical representation of the pedigree is made, and then a geneticist analyzes the pedigree.

As a result of this analysis, the doctor can obtain very important information about a particular symptom: for example, determine whether a given symptom or disease is isolated in the family or is of a familial nature; determine the type of inheritance if a trait occurs several times in different generations.

Stage 2: study of the chromosome set of future parents

Chromosomes are visible under a microscope in the nucleus only during certain phases of cell division. To study the chromosome set, blood is taken from the patient and lymphocytes are isolated from it.

Next, in a test tube, they are stimulated, forcing them to divide, and after a few days of division, the culture is treated with a special substance that stops the process of cell division precisely at the stage when chromosomes are visible. Smears on glass slides are prepared from the culture cells to be used for research.

To obtain additional information about the structure of chromosomes, special staining is used, as a result of which each chromosome acquires a specific cross-striation. The chromosomes are now completely ready for analysis.

A geneticist analyzes 11–13 cells under a microscope to identify changes in the karyotype (chromosome set), detecting quantitative and structural changes.

For example, in Turner syndrome, which causes short stature, facial features and infertility in women, the karyotype contains 45 chromosomes (one X chromosome instead of two). In Klinefelter syndrome, which is accompanied by male infertility, there is an extra X chromosome: 47, XXY.

Stage 3: prenatal diagnosis

Prenatal diagnosis is an intrauterine examination of a child before birth, aimed at identifying hereditary diseases and developmental defects in the fetus. There are different types of prenatal diagnostics.

Non-invasive methods are absolutely safe and include ultrasound scanning of the fetus and determination of biochemical markers in the pregnant woman’s blood.

Invasive methods involve a medical “invasion” into the uterine cavity in order to take material for research and accurately determine the karyotype of the fetus and, therefore, exclude pathologies such as Down syndrome, Edwards syndrome and others. Invasive procedures include chorionic villus sampling, amniocentesis, placentocentesis, and cordocentesis.

In this case, chorion or placenta cells, amniotic fluid, and blood from the fetal umbilical cord are collected for research. Performing invasive procedures is associated with a risk of complications, so they are carried out according to strict indications:

1. - pregnant woman’s age is 35 years or older;
2. — the family has already had a child with a chromosomal pathology or developmental defects;
3. - parents are carriers of chromosomal rearrangements; have abnormal levels of biochemical markers (PPAP, hCG, AFP);
4. - if developmental defects or abnormalities are detected during an ultrasound examination.

Invasive diagnostics are also carried out in case of a high risk of a gene disease for the fetus or to determine sex in diseases whose inheritance is linked to sex. For example, if the mother is a carrier of the hemophilia gene, which she can only pass on to her sons. The study can determine the presence of a mutation that causes the disease.

All invasive procedures are performed by experienced specialists under ultrasound guidance in a day hospital. After the procedure, the pregnant woman is observed for 2–3 hours. In order to prevent possible complications, she is prescribed certain medications.

The fetal cells obtained as a result of the procedures are analyzed by molecular methods for a specific gene disease. Currently, methods for diagnosing three hundred of the five thousand hereditary diseases have been developed.

Chorionic villus sampling is the process of obtaining cells from the future placenta. A chorionic villus biopsy is performed at 9–12 weeks of pregnancy by transabdominal puncture (through the anterior abdominal wall).

The whole procedure takes little time, and results are obtained within 3-4 days after collecting the material. The risk of spontaneous abortion after chorionic villus sampling is 2%.

The advantages of this method are the early timing and high speed of response, which allows, if fetal pathology is detected, to terminate the pregnancy at an early stage.

Amniocentesis is the collection of amniotic fluid at 16–24 weeks of pregnancy. Amniocentesis is the safest invasive method of prenatal diagnosis, since the percentage of complications after its use does not exceed 1%. However, amniocentesis also has its disadvantages.

Since there are very few fetal cells in the collected sample, it is necessary to give them the opportunity to multiply in artificial conditions. This requires special nutrient media, temperatures, reagents, and sophisticated equipment. Well, time, of course.

It may take 2 to 6 weeks for cells to grow sufficiently.

Cordocentesis is a puncture of the fetal umbilical cord and collection of cord blood for testing. Cordocentesis is a highly informative method, and chromosome analysis takes about five days. The optimal period of implementation is 22–25 weeks of pregnancy.

The issue of invasive diagnostics is decided individually, while it is advisable for all pregnant women to carry out harmless non-invasive studies, because prenatal diagnostics answers the main question raised during medical genetic counseling: is the fetus sick or not?

Stage 4: Family Planning

Prenatal diagnostic methods make it possible to accurately determine the presence of pathology in the fetus, which is necessary for the family to make an informed decision about the fate of this pregnancy: to continue pregnancy or not? Nowadays, effective methods for treating many defects have appeared. The doctor’s task in this case is to provide the most complete information about this pathology, the possibilities of its treatment, life prognosis and recurrence risk (in subsequent pregnancies).

Stage 5: prevention of hereditary diseases in the family

Periconceptional prevention includes the following stages:

Choosing the time of conception. Numerous studies have shown that the risk of having a child with congenital malformations is especially low if conception occurs in late summer - early autumn. The highest probability of the appearance of sick offspring is recorded during conception in the spring months.

Examination of spouses before pregnancy to identify various infectious, endocrine and other diseases. Hormonal changes and chronic infections, especially of the genital tract, can disrupt the maturation of germ cells and the formation of the embryo.

Therefore, before conception, the health of both spouses is required: they are recommended, if necessary, to undergo a course of therapy, quit smoking, alcohol, and, if possible, limit contact with harmful production factors.

Families with a family history of pathology should undergo DNA testing.

Taking multivitamin preparations for 2–3 months before conception. These medications should contain folic acid (up to 0.4–1 mg per day), ascorbic acid, a-tocopherol, and B vitamins.

The spouses' diet is enriched with foods that also contain folic acid: greens, tomatoes, legumes, liver.

Such therapy normalizes metabolic processes in cells, ensures the proper functioning of the genetic apparatus, and creates favorable conditions for the intrauterine development of the fetus.

Pregnancy monitoring, which includes prenatal diagnostic methods to detect possible pathology in the fetus.

A timely prenatal examination can identify most possible congenital and hereditary pathologies and prevent the birth of a sick child. It should be especially emphasized that genetic counseling and early prenatal diagnosis more often exclude fetal pathology and give the family the happiness of having a healthy child.

Read the continuation of this article: http://www.u-mama.ru/read/article.php?id=2055

See also the article: When is genetic counseling necessary?

Source: https://www.u-mama.ru/read/waiting/pregnancy/2049.html

Genetic examination of diseases (hereditary diseases)

Genetic examination of diseases and hereditary diseases (DNA analysis of diseases, DNA test for diseases, examination of genetic diseases) is one of the types of molecular genetic examination, the main purpose of which is DNA diagnostics in order to identify suspected or confirm existing hereditary genetic diseases and syndromes.

In most cases, the objects of genetic examination of diseases are human blood.

DNA analysis of genetic diseases and hereditary pathology can be carried out both by biologists or geneticists, as part of biological or molecular genetic examination, and by forensic doctors, as part of forensic medical examination.

It should be noted that, after all, the most profound knowledge in the field of molecular genetics and molecular diagnostics of hereditary pathology, and, accordingly, in the field of DNA diagnostics of diseases, is precisely expert biologists and genetic experts (not to be confused with geneticists) .

Therefore, experts at our Center recommend diagnosing genetic diseases within the framework of molecular genetic examination by expert biologists or geneticists.

• Conducting genetic examination of diseases is one of the main and priority activities of our expert Center.
• You can find out  the cost of genetic examination of diseases
• You can find out  questions about genetic examination of diseases

Note! Considering that molecular genetic examination of hereditary and genetic diseases is an extremely complex type of examination, therefore, the price for such examinations can be very high (several hundred thousand rubles).

Procedural types of genetic examinations of diseases:

Just like other types of independent genetic examinations, procedurally, genetic examination of diseases can be:

•  pre-trial (extrajudicial), i.e. carried out on the basis of a request from individuals and legal entities, or lawyers, with the subsequent drawing up of a specialist opinion;
•  forensic (forensic genetic examination of diseases, forensic molecular genetic examination of diseases, genetic examination of diseases for the court), i.e. appointed and carried out by court ruling, investigator or inquiry officer, with the subsequent drawing up of an expert opinion.

Goals and objectives of independent genetic examinations of diseases:

•  establishment, i.e. DNA diagnostics of genetic diseases;
•  confirmation of the presence of genetic diseases;
•  differential diagnosis of hereditary and congenital pathologies (it should be noted that congenital pathology is not always hereditary);
•  prenatal (antenatal) DNA diagnosis of hereditary diseases;
•  assessment of the objectivity and scientific validity of previously conducted genetic examinations and DNA diagnostics of hereditary diseases;
•  review of genetic examination of diseases;
•  other types of molecular genetic examinations of hereditary and congenital pathologies
•  carrying out other types of genetic examinations and DNA studies (see in detail the section Genetic examination (DNA analysis).

Our Center conducts all types of genetic examinations of diseases and hereditary syndromes!

By conducting a molecular genetic examination of hereditary diseases in our Center, you can count on the completeness and objectivity of the research, the independence and impartiality of our experts and specialists, and the high level and quality of the work performed.

Note! Before applying to the court to conduct and order a genetic examination of diseases in our Center, contact us at the central office for a Letter of Guarantee, where we will indicate the deadlines and the price of genetic examination of diseases.

1. To learn more about the conditions for DNA analysis of genetic diseases in our Center, find out the cost of forensic DNA analysis of hereditary diseases, get written or oral advice, order an independent genetic examination of congenital pathology and hereditary diseases, or conduct a review of genetic examination of diseases, you can call:
2. 8-916-145-00-27 – weekdays (from 10:00 to 18:00) weekends and holidays (from 12:00 to 20:00)

Source: https://www.sudkrim.ru/index.php/geneticheskaya-ekspertiza-zabolevanij-nasledstvennykh-boleznej

Genetic DNA analysis for diseases

A test for genetic diseases is recommended in the following cases:

• There are symptoms that suggest the presence of genetic syndromes in the patient.
• Search for genetic characteristics that are highly likely to lead to the development of some pathology in the future.
• Planning pregnancy if there is a family history of children with hereditary diseases. In this case, a genetic test is performed to assess the likelihood of having a child with a pathology and to select methods for adaptation and rehabilitation of such children.
• Prenatal diagnosis - DNA analysis for genetic diseases in the fetus to confirm or refute the presence of a hereditary disease. A molecular genetic test is carried out for families who want to protect themselves from the possible risks of having a child with a genetic pathology.

What diseases are there genetic tests for?

Today, you can take a DNA test for more than 4,500 genetic diseases. Moreover, these are not only severe genetic syndromes, but also quite common somatic diseases.

For example, a genetic test for hereditary diseases may be prescribed by a doctor if the course of the disease is atypical for the diagnosis and traditional therapy does not have the expected effect.

In general, DNA tests for hereditary diseases are designed to search for pathologies of almost all organs and systems of the human body. They are used in most medical specialties and do not always have a high price.

Research of genetic diseases in pathology of the heart and blood vessels

It has been established that the presence of cardiac disease in parents increases the risk of its occurrence in children by approximately three times. At the same time, the tactics of patient management in the presence of genetic disorders may differ from the generally accepted ones.

For example, medications may be prescribed for drug therapy other than those described in standard protocols. Or, based on the results of a DNA test for diseases, surgery may be recommended if there are no expected results from conservative therapy.

Our laboratory offers DNA analysis to determine patients’ predisposition to the following diseases:

• thromboembolism;
• heart attacks and strokes;
• hypertension;
• various cardiomyopathies, including myocardial hypertrophy and dilated cardiomyopathy;
• coronary heart disease;
• arrhythmias.

DNA analysis for cancer

Today it has already been proven that oncology is always the result of genetic disorders. Moreover, the same morphologically similar neoplasms of the same organ can be the result of completely different mutations.

Accordingly, their treatment and prognosis will vary. DNA analysis for cancer diseases today is an integral part of the diagnostic process and is performed by all modern specialized clinics.

In general, in oncology, DNA analysis is carried out in the following cases:

• determination of hereditary predisposition to malignant neoplasms;
• establishing diagnosis;
• monitoring the course of the disease;
• selection of individual therapy.

A DNA test for predisposition to malignant diseases is recommended in the following cases:

• several cases of cancer in one family, especially if young people suffered from it;
• The patient has already been diagnosed with certain malignant tumors at a young age. In this case, there is a risk of developing other types of cancer.

Genetic analysis makes it possible to prevent the development of a hereditary disease or identify it at the initial stage, when treatment has the maximum effect.

The most popular example in this case is mutations in the BRCA1 and BRCA2 genes. The knowledge obtained using a DNA test for a hereditary disease allows you to more accurately assess the risks of developing malignant pathology and take certain measures.

For example, patients at high risk of developing cancer may consider preventive surgery to remove the breast and ovaries after a certain age as a preventive measure.

In addition, regular monitoring is an option, including MRI of the mammary glands.

Information obtained through genetic analysis for hereditary malignant diseases can help determine drug prevention. For example, there is evidence that taking aspirin reduces the risk of colon cancer, and taking oral contraceptives reduces the risk of breast cancer.

As for making a diagnosis and monitoring the course of the disease, DNA analysis is a reference method that allows making a diagnosis in controversial cases, when the picture is unclear as a result of examination by other diagnostic methods, for example, immunohistochemistry.

In addition, there is now a relatively new technology called liquid biopsy.

First of all, the study is prescribed if there is a positive genetic analysis for a predisposition to cancer.

Treatment of a malignant tumor is also impossible without taking a DNA test for genetic diseases and determining the molecular profile of the tumor. The data obtained as a result of DNA analysis will allow doctors to prescribe therapy that is effective for a particular patient, while avoiding the ineffective prescription of chemotherapy drugs.

The Allel Center for Innovative Biotechnology has high-tech equipment that allows you to perform a genetic test for identifying diseases using DNA with maximum accuracy at a relatively low price. The availability of modern equipment, qualified employees, as well as the use of techniques that have proven their effectiveness, allow us to find solutions in the most difficult cases.

Find out the price of a DNA test for diseases by phone or by asking a question in the online form below.

Source: https://AllelTech.com/shop/catalog/testy-dnk/dnk-test-na-bolezni/

Why do you need a consultation with a geneticist?

06′17Jun

Genetics is a broad science that studies the patterns of heredity and variability. The branch of this science, called human genetics, concentrates on the study of aspects of heredity and variability in humans.

Genetics has acquired particular importance in family planning. This relatively young science has not received much attention until recently.

But today, each of us has access to genetic tests, which can be prescribed by a geneticist when planning childbearing and during the period of bearing a child.

Who is a geneticist?

A geneticist is a doctor who identifies the hereditary nature of a particular pathology. A specialist who understands the genetic aspects of various human diseases.

During pregnancy, a geneticist can not only assess the genetic risks of developing hereditary pathologies in the fetus, but also identify environmental factors that affect the health of the unborn baby and the outcome of pregnancy.

The results of such an examination of the fetus, as well as a preliminary genetic examination of spouses when they are planning childbearing, form the basis for pregnancy management tactics developed by a geneticist in a particular married couple.

Why do you need a consultation with a geneticist?

Out of every 100 newborns, at least 5 are born with developmental defects and diseases inherited from their parents. Unfortunately, even a healthy couple can have a sick child .

But today we can find out this in advance and develop an action plan to help give birth to a healthy baby.

How? A geneticist will help with this, who, during a medical genetic appointment, will analyze the pedigree of the applicants, carry out a thorough examination with an assessment of the phenotype, and study medical extracts relating to both the health of the spouses themselves and previous pregnancies.

Preventive genetic analysis is an opportunity not only to eliminate the risk of natural birth of children with chromosomal abnormalities, but also to assess the likelihood of an embryo being conceived with one of the most common gene diseases.

All these studies are prescribed by a geneticist during a medical genetic consultation, during which the doctor explains in detail the goals and possibilities of genetic screening, as well as the subsequent action plan in the event that a latent carriage of mutations in the same genes of a monogenic pathology is detected by spouses.

Based on the data from such diagnostics, the geneticist makes the necessary practical recommendations for future parents and develops pregnancy management tactics.

Who needs genetic counseling?

Pregnancy planning should begin with a visit to a geneticist. If pregnancy has already occurred, such consultation is especially necessary for everyone who has an increased risk of having a child with a hereditary/congenital pathology.

Namely:
• in the presence of hereditary or chronic diseases in one of the parents;
• when the family history is aggravated by the birth of a child with genetic abnormalities;
• if there is a history of miscarriages or missed pregnancies;
• in case of consanguineous marriage;
• older spouses (woman over 35 years old, man over 42 years old);
• when malformations are detected in the fetus or unfavorable results of screening of pregnant women are obtained;
• when taking certain medications shortly before pregnancy or during pregnancy;
• exposed to radiation or toxic substances.

• Also, in some cases, a consultation with a geneticist is necessary to conduct a molecular genetic examination to establish a biological relationship.
• What genetic research exists today?
• All information about a person - and, in particular, about his predisposition to diseases - is encrypted in the DNA molecule.
  To identify possible hereditary diseases in an unborn child, the following is carried out: • a screening genetic test - identifies pathogenic mutations that cause the development of the most common gene diseases;
  • non-invasive prenatal test Prenetix - diagnosis of chromosomal pathologies of the fetus using fetal DNA in the blood of a pregnant woman;
  • preimplantation genetic diagnosis - diagnosis of genetic diseases in the embryo before the onset of pregnancy (in the IVF/ICSI cycle);
  • neonatal screening – a test for newborns to identify the most common monogenic diseases or their carriage;
• • DNA diagnostics of female infertility - a comprehensive examination to identify mutations that cause female infertility;

• study of latent carriage of spinal muscular atrophy - identification of mutations in the SMN1 and SMN2 genes located on chromosome 5 (the frequency of mutation carriage in the general population is about 1:43);
• genetic diagnosis of cystic fibrosis - study of the most common mutations in the CFTR gene (31 mutations + IVS8-T polymorphism), which are the cause of this severe systemic hereditary disease.

Do you need a geneticist in Moscow?

An appointment with a geneticist in Moscow is available at the GENETICO Center for Genetics and Reproductive Medicine.
You can make an appointment or online consultation on the website or by calling 8 800 250-90-75. Registration is carried out around the clock

Over the years, we have helped many couples - reviews of the work of our specialists speak for themselves! Our patients are happy parents of healthy babies.

Ask our consultant any questions you have or write to [email protected] .

Source: https://genetico.ru/stati/zachem-nuzhna-konsultatsiya-vracha-genetika.html