Personalized Genomic Diagnostics Laboratory

АБИЛЬДИНОВА ГУЛЬШАРА ЖУСУПОВНАDR.GULSHARA ABILDINOVA, Head of the Laboratory

Geneticist of the highest category, doctor of Medical Sciences, Professor. Total professional experience - 29 years, scientific and pedagogical-26 years. Several times passed training in the leading genetic centers of the world  (Israel, Switzerland, Turkey, Russia), has international certificates. Member of the International Association of cytogenetics, mutagenesis of the Russian Society of Medical Geneticists.

DIAGNOSTICS OF NEUROMUSCULAR DISEASES

SPINAL AMYOTROPHY TYPES I, II, III, IV: SEARCH FOR DELS IN SMN1 GENE

Spinal muscular atrophy (SMA) or proximal spinal amyotrophia is an inherited disease in which there is a violation of the function of the nerve cells of the spinal cord, leading to the progressive development of muscle weakness, their atrophy, and as a result, immobilization of the patient.

One among 35 people is an asymptomatic carrier of a mutation leading to SMA, and a sick child is born when 2 such mutations occur, on the mother’s side and on the father’s side. This happens about 1 time per 6 000 births - in families where no one, as a rule, did not hear about such a disease, where there were there no sick relatives, harmful environmental factors - nothing that could suggest a high risk of genetic problems. The cause of the disease in most cases are mutations in the genes SMN1 and SMN2, located in chromosome 5.

Since this disease is hereditary, it is important for the correct diagnosis to be made that the geneticist collects the family history in detail and prescribes the necessary genetic testing.

Important! When confirming the diagnosis in the family, it is necessary to conduct a genetic examination of the patient’s close relatives.

Unfortunately, to date, specific treatment of the disease does not exist. Only symptomatic therapy is possible: physiotherapy, massage, etc.

For families who have already faced this disease and want to have healthy children in the future, there are several options for prevention: prenatal diagnostics, the use of donor sperm and eggs, preimplantation genetic diagnosis (PGD). PGD allows you to examine the embryos obtained by IVF, even before pregnancy and choose the one that did not inherit the disease. More and more families in the world prefer this format of prevention.

 

TO LEARN about the RISK, WITHOUT WAITING for the BIRTH of a SICK CHILD, YOU CAN use genetic screening, developed by the laboratory of the Hospital, on the carrier of mutations that lead to SMA.

 

THE TITLE OF THE STUDY:

Molecular genetic diagnosis by MLPA of large deletions/duplications in SMN1 and SMN2 genes associated with spinal muscular atrophy

What is the study used for?

In accordance with international clinical guidelines, genetic testing to determine major deletions/duplications in the smn1 and SMN2 genes is carried if the patient has clinical symptoms characteristic to the disease, as well as relatives

- to verify the diagnosis of “spinal muscular atrophy” if the patient has clinical symptoms;

- to assess the severity of clinical manifestations and prognosis of spinal muscular atrophy;

- to assess the risk of having a child with spinal muscular atrophy or carrier of its genetic mutation.

When is the study to be performed?

- if there is a suspicion for  spinal muscular atrophy of werdnig-Hoffmann, Kugelberg-Welander based on anamnesis and clinical symptoms;

- in cases of suspected spinal muscular atrophy,

- differential diagnosis of motor neuron disease;

- in cases of differential diagnosis of muscle weakness;

- early detection of the disease in relatives;

- in family planning - to assess the genetic risk to the unborn child.

What do the results mean?

The reference values

SMN1 gene exon 7

2 copies of 7 exon of SMN1 gene were detected

SMN1 gene exon 8

2 copies of 8 exon of SMN1 gene were detected

Determining the number of copies of the SMN2 gene

Number of SMN2 gene copies -1 copy of the gene;
Number of SMN2 gene copies-2 copies of the gene;
Number of SMN2 gene copies-3 copies of the gene;
The number of SMN2 gene copies - 4 copies of the gene


If the mutation is determined in both copies of the gene (ie, in both chromosomes), it leads to the development of spinal muscular atrophy..

Detection of abnormalities in one chromosome indicates the carrier, the disease does not occur, but two carriers there is a risk of having children with pathology.

The absence of mutations in both copies of the gene indicates that there is no risk of spinal muscular atrophy in both humans and children

Important note

To obtain an opinion on the results of the examination, you should consult a geneticist.

What biomaterial can be used for research?

Venous blood

How to prepare for the study?

Preparation for the study is not required

The cost of the study:

70 500 KZT


Determination of mutations in the DMD gene at Duchenne/Becker myodystrophy by MLPA

Duchenne/Becker myodystrophy is caused by a mutation in the gene encoding the protein dystrophin (DMD gene). It refers to hereditary diseases with X-linked recessive, it affects 50% of boys, while women can be carriers of the damaged gene. In about 2/3 of cases, the son receives a chromosome with damage from the mother carrier, in other cases, the disease occurs as a result of primary mutation (de novo).

Миодистрофия Дюшенна Беккера.jpg

The DMD gene consists of 79 exons. With muscular dystrophy, mutations (most often deletions) of one or more exons of the gene are detected, less often point mutations or duplications. In this study, mutations of all exons from 1 to 79 are analyzed.

Duchenne myodystrophy (DMD) is most often manifested at an early age of 2-5 years and is characterized by progressive muscle weakness, muscle atrophy, often accompanied by cardiomyopathy and intellectual impairment. In the initial stages of MD, the proximal parts of the muscular system (the muscles of the hip, pelvis, shoulder) are mainly affected, but with subsequent progression, all parts of the muscular system are affected. The biochemical marker of the disease is an increased (100-200 times) level of creatine phosphokinase (CPK) in the blood. In carriers of the damaged gene, the level of CPK is also slightly elevated.  

 

THE TITLE OF THE STUDY:

Determination of mutations in the DMD gene in Duchenne myodystrophy by MLPA

What is the study used for?

In accordance with international clinical guidelines, genetic testing for Duchenne/Becker myodystrophy is performed if the patient has clinical symptoms characteristic to the disease, as well as relatives and children of the patient..

When is the study to be performed?

- in cases of suspected Duchenne/Becker myodystrophy;

- in differential diagnosis of muscle weakness;

- in differential diagnosis of muscle cramps and myoglobinuria;

- early detection of the disease in relatives;

- family planning.

What do the results mean?

Genetic testing is the primary method of diagnosis confirmation and is based on the detection of deletion or duplication of one or more exons by fragment analysis in the DMD gene.

Normal values: Pathological deletions and duplications of exons 1-79 in DMD gene were not detected.

Positive result: deletion/duplication is detected in the DMD gene. Diagnosis “Duchenne/Becker myodystrophy” is confirmed.

The presence of the mutation is a molecular genetic confirmation of the clinical diagnosis of Duchenne/Becker myodystrophy and allows prenatal diagnosis in the family.

What can influence the result?

The DMD gene responsible for Duchenne/Becker myodystrophy is located at the Chr.21.2-r.21.1 locus and consists of 79 exons. In 60% of cases, mutations are extended deletions (from one to several dozen exons), in 10% of cases – point mutations and 30% - duplications. If a point mutation is suspected, exome sequencing is required.

Important note

To obtain an opinion on the results of the examination, you should consult a geneticist.

What biomaterial can be used for research?

Venous blood

How to prepare for the study?

Preparation for the study is not required

The cost of the study:

70 500 KZT

For more information, please contact:

8 (7172) - 70 - 81 - 34


Molecular genetic assessment of the relationships of microorganisms (microbiome) of human

Intestinal tract microbiome analysis is a simple, non-invasive and effective way to find out, using advanced molecular genetics technology, how many beneficial bacteria You have in your colon. If you count by weight, the body of an adult [microbes] on average about one and a half kilograms. This makes our microbiota one of the largest organs, which rivals the brain in weight and is only slightly inferior to the liver. Bacteria in the gastrointestinal tract that make up the gut microbiome play a vital role in your immune system, thyroid function, bone health and overall health. A complex network of lymphoid cells along with beneficial bacteria in the small intestine help fight infections and regulate the immune system. The beneficial bacteria found here also produce key nutrients such as vitamins and fatty acids. In fact, it has been estimated that up to half of the daily intake of vitamin K is provided by intestinal bacteria. These bacteria also help create movement in the colon to move content through the gut. However, when beneficial microorganisms multiply to numbers above normal or colonize the small intestine they feed on carbohydrates from our food, creating excess gas, bloating and inflammation that affect our nutrient uptake.


микрофлора

The analysis also reveals the presence of pathogens such as yeast, parasites and bacteria that contribute to chronic diseases and digestive disorders. Fortunately, once You begin to control and restore the gut’s natural balance, you can eliminate these frustrating digestive symptoms.

 

Is the study right for you?

The human body is a flawlessly engineered machine designed to function in a certain way and to heal itself intelligently. Unfortunately, the average person from an early age gradually abandons the natural design of the body, eating unnatural foods, sitting all day or living in an environment of high stress. There are also medications that affect or disrupt the normal intestinal flora, such as antibiotics, acid-blocking medications and steroids. All this has led to an epidemic of chronic diseases in the world.

Don’t take pain, fatigue, inability to concentrate or obesity as normal! If you want to feel better, work better, and get rid of your addiction to medication, gut microbiome study can help you. The report provides useful information about which prescription and natural products are most effective against certain strains of the body found in the stool sample. Gut health is a window into our overall health, and this advanced test provides a lot of information about our gut microbiome. Following the recommendations you will be able to improve the overall condition of the intestine and the state of the immune function of the intestine..

Dear patients! Now you have the opportunity to get the opinion of a qualified geneticist on the results of genetic studies. The conclusion of the geneticist includes an explanation of the value of the identified enterotype, possible pathogenetic mechanisms associated with the development of certain conditions, individual risks of pathological conditions and recommendations for prevention, diagnosis and possible approaches to patient management.

Microbiome testing and consultation with our team of doctors, medical geneticists, gastroenterologists and nutritionists can guide you on the path to optimal Health and Wellness!

кишечные бактерии
Кишечные бактерии говорят нам как правильно питаться!

Necessary studies:

Molecular genetic assessment of ratio of microorganisms (microbiome) of the person

Research material:

Feces collected in a sterile plastic container.

Preparation for the study:

The day before the test to limit eating of vegetable food

The cost of the study:

167 000 KZT

For more information, please contact:

8 (7172) - 70 - 81 - 34