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Genetic Screening

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Genetic Screening
In any country is not given as much attention to the protection of motherhood and childhood, as in Israel, so one of the priority areas of medicine in Israel is a medical genetics.
The main reason for the treatment of couples in the Centre for Medical Genetics in Israel is the desire to ensure the genetic health of their children planned. Another cause is the identification of a genetic predisposition to cancer and their prediction.

Other doctors can also refer patients for genetic testing to rule out chromosomal aberrations if they have defects, disorders of the reproductive, physical and mental development, and couples who have a child with a chromosomal disorder (Down syndrome), couples with infertility.

Medical genetics clinics in Israel is not only an extension of genetic testing, but also the whole complex of laboratory and instrumental studies that will help to put the correct diagnosis. Medicogenetic Israeli institutions equipped with the most innovative equipment, which employs the best qualified professionals in the field of genetics and diagnostics. All research data are compared and analyzed in detail, and then held power forecasting risk of genetic diseases.
Recommended tests
Testing to identify carriers of Tay-Sachs (TS)
Tay-Sachs disease (BPS) (also known as GM2 gangliolipidoz deficit hexosaminidase or neonatal amavroticheskaya idiocy) – is an autosomal recessive genetic disease that causes progressive deterioration of mental and physical abilities of the child. The first symptoms usually appear around the age of 6 months. The disorder usually leads to death in a human patient aged about 4 years.

The disease is caused by a genetic defect of a specific gene. If the child impressed BTS, it means that he inherited on a single copy of the defective gene from each parent. The disease occurs when nerve cells in the brain accumulates dangerous amount of gangliosides resulting in premature death of these cells. At present, there are no effective drugs or other treatments for this disease. BTS – quite rare in comparison with other recessive diseases, such as, for example, cystic fibrosis (cystic fibrosis) and sickle cell anemia – which are more common.

Testing to identify carriers of the gene for cystic fibrosis (CF)
Cystic fibrosis (also known as CF) is a common inherited disease that affects the entire body, causing progressive disability and often early death. Shortness of breath is the most serious symptom.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices and mucus. Although most people without CF, have two working copies of the gene CFTR, only one is needed to prevent cystic fibrosis. CF develops when the gene does not work properly. Therefore, CF is considered an autosomal recessive disease.
CF is most common among Caucasians and Ashkenazi Jews, one of the 25 people of European descent carry one gene for CF. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing.
Testing to identify carriers of the gene family dysautonomia (FD)
Family dysautonomia syndrome (Paradise l and-Day) – hereditary sensory autonomic neuropathy type III (PSVN-W), an autosomal recessive zaboleva¬nie especially common among Ashkenazi Jews. It belongs to a group of hereditary sensory autonomic neuropathies (NSVN), which in time nasto¬yaschee include seven clinically and genetically different from each dru¬ga forms. The disease is associated with impaired development and survival of sensory, sympathetic and parasympathetic neurons in part. Frequency-one case per 3600 live births Ashkenazi Jews.
Diagnosis of Fragile X Syndrome
Syndrome Fragile X – is a common cause of mental retardation in humans. The disease is caused due to changes in the genetic material: it leads to a mutation in the gene FMR-1 X chromosome.
Men who have discovered the gene mutation, tend to suffer from behavioral disorders, autism characteristic external features. Women’s syndrome Fragile X, tend to suffer from problems in development and mental retardation.
The only way to track down the problem in heredity is to identify the gene responsible for the disorder. Mutation of the DNA segment is expressed, which contains the same at base triplets.
Diagnose diseases by sampling blood test. This was followed by a molecular test, which can detect disturbance in the chain of chromosomes. If the mutated gene is found, the patient is required to urgently pass genetic counseling.
Testing to identify carriers of genes SMA
Spinal muscular atrophy (SMA) – a genetic disorder that affects the area of the nervous system responsible for the control of movement of voluntary (skeletal) muscles
Most neuronal cells controlling muscle are in the spinal cord, hence – the word “spinal” in the name of the disease. The word “muscle” says that suffer muscle that do not receive signals from these nerve cells. Well, “atrophy” – the medical term for exhaustion or “shrinkage”, which happens to muscles when they are inactive
In the AGR there is a loss of nerve cells in the spinal cord motoneurons called, so it is classified as a disease of motor neurons.
Testing to identify carriers of the disease gene Canavan
Canavan disease (CD), which is still known as Canavan disease Van Bogart-Bertrand aspartoatsilazy deficit or deficit aminoacylase – is an autosomal recessive neurodegenerative disease that causes progressive damage to nerve cells in the brain.

Canavan disease – this is one of the most common diseases that occur in childhood and affect the brain (brain disorders). BC refers to a group of genetic disorders called leukodystrophies. Leukodystrophy characterized by degeneration of the phospholipid layer of cells of the myelin sheath of axons of the neuron. Gene mutation which leads to frustration, is located in chromosome 17.
Although Canavan disease may occur in any ethnic group, but most often it affects Ashkenazi Jews, who mostly live in Eastern Europe. One person out of 40 (of Jewish origin) of living in Eastern Europe, is a carrier of the disease.
Diagnostics to identify the syndrome aciduria 3-metilglyutakonika type 3
Syndrome aciduria 3-metilglyutakonika type 3 (AM3) is characterized by organic aciduria, which is associated with atrophy of the optic nerve and choreoathetosis (abnormal movement of the body), as well as 3-metilglyutakonikom aciduria. In the literature, there is a description in AM3 and Iraqi Jewish families; its prevalence is 1 in 10,000 disease develops as a result of gene mutation ORA3 (19q13.2 – q13.3). Biological gene product ORA3 not currently installed, one of the assumptions is that the regulation of the functional activity of the mitochondrial genome.
Diagnostics to detect metachromatic leukodystrophy (MLD)
Metachromatic leukodystrophy is a severe genetic disorder of the nervous system. The disease can occur in varying degrees of severity. As a rule, the main symptoms are manifested at the age of two years. Within a very short period of time, the disease progresses, which eventually leads to end-stage – the death of the patient. Due to progressive deterioration of muscle function, increased seizures, and other related symptoms, the majority of cases, children do not live longer than five years. Cerebrospinal fluid of children suffering from metachromatic leukodystrophy contains high levels of protein.
Diagnostics to identify the defect gene MTHFR (methylenetetrahydrofolate reductase)
Methylenetetrahydrofolate reductase (MTHFR) plays a key role in the metabolism of folic acid. The enzyme catalyzes the reduction of 5,10-metilentetragidrofolyata 5-metiltetragidrofolyat. Last is the active form of folic acid required for the formation of methionine from homocysteine ​​and then – S-adenosylmethionine, which plays a key role in the process of DNA methylation. Deficiency of MTHFR contributes not only teratogenic (damaging the fruit), but also mutagenic (DNA damaging) action. When this occurs inactivation of many cellular genes, including – oncogenes. This is one of the reasons that oncologists are interested in genetic variants of MTHFR.
MTHFR gene is located on chromosome 1r36.3. There are about two dozen mutations of this gene disrupts the function of the enzyme. The most studied mutation is one in which the nucleotide cytosine (C) at position 677 replaced by thymidine (T), which leads to the replacement of an amino acid residue from alanine to a valine residue (position 222) to the folate binding site. This is referred to as polymorphism MTHFR mutation C677T. Individuals homozygous for this mutation (genotype T / T), marked thermolability and reduced MTHFR enzyme activity to about 35% of the mean.
In the general population of the globe, 677T mutation of the MTHFR gene is widely distributed among representatives of European (Caucasian) race – in 35-55% of cases.
Testing to identify carriers of the gene, called Fanconi anemia (Fanconi & C)
Fanconi anemia – an autosomal recessive genetic disorder. This means that it is necessary two genes (one inherited from each parent) to cause disease (risk of having an affected child is 25%). About 2% of Fanconi anemia – a recessive disease-linked chromosome X, this means that if the mother is a carrier of a defective gene, then there is 50% likelihood that children will be affected male AF.

At present, 13 known genes in which mutations cause the development of Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM and FANCN. FANCB be called exceptions, that is, when there is a mutation of this gene, the disease is not considered to be an autosomal recessive, because this gene is on the X chromosome. Therefore, in this case, it is X-linked recessive disorder.

Approximately 1,000 people worldwide are currently overwhelmed Fanconi anemia. Carriers among Ashkenazi Jews is one of 90 people For those families where there are cases of the disease, it is recommended to pass genetic testing and seek genetic counseling.

Malfunctions of the hematological components involved in the formation of white blood cells, red blood cells and platelets, resulting in the fact that the ability of the organism to fight infection, carry oxygen and form clots – are significantly reduced.
Testing to identify carriers of the gene syndrome named Bloom (Bloom)
Bloom’s syndrome (SS), (born. Bloom syndrome), also known as Bloom syndrome Torre-Machacek – this is a rare autosomal recessive chromosomal disorder that is characterized by a high frequency of breaks and rearrangements in the chromosomes of a sick person.
Bloom’s syndrome is inherited in an autosomal recessive manner. That is, both parents must be carriers in order to have their child is sick. Carriers of the disease among Ashkenazi Jews, mostly come from Eastern Europe, is the one person on the 100 If both parents are carriers of the Security Council, in 25% of cases, the child may be sick.

Those family members who may be carriers of the disease is recommended to ask for genetic counseling or undergo genetic testing. For carriers, the parents who are planning to have a child, should be carried out prenatal diagnosis using cytogenetic and molecular methods. It is also possible to carry out molecular analyzes to determine the presence of DNA mutations.
Testing to identify disease genes in Friedreich’s ataxia
Friedreich’s ataxia – one of many hereditary ataxias. The first symptoms usually appear 1-2 th decade of life. They are characterized by a combination of typical neurological and extraneural manifestations. First, there is ataxia when walking (awkwardness neuvenrennost, staggering, stumbling), then join in violation of coordination in hands, handwriting change, weakness in the legs, dysarthria. Early and important feature of this ataxia is the disappearance of the tendon and periosteal reflexes (especially Achilles and knee), which then leads to a total areflexia. There is a profound violation of the (joint and muscle and vibration) sensitivity, muscular hypotonia. Gradually increases cerebellar ataxia and sensitivity, weakness and atrophy of the leg muscles. In the late stages of the disease paresis, amyotrophy and deep sensitivity disorder spread his hands. patients no longer walk alone and take care of themselves. in some cases there is nystagmus, hearing loss, optic atrophy, disruption of the pelvic organs, dementia (dementia).
Testing to identify carriers of the disease, type A Niemann
Niemann-Pick disease – a neurodegenerative disorder in which the various parts of the body in deleterious amounts accumulated fat cells. Symptoms include loss of brain function and enlargement of the liver and spleen. The average life expectancy of children suffering from this disease is 2-3 years. Each carrier is the 90th Ashkenazi Jew.
Testing to identify carriers of glycogen storage
Glycogen storage disease is a group of inherited disorders of the ways the accumulation of carbohydrates in the form of glycogen and the ways of its utilization to maintain the level of sugar in the blood and tissues provide energy. In some forms of this pathology glycogen content in tissues is not increased.
Glycogen – a highly branched polymer of glucose residues, most of which have a 1,4-bond, and 7-10% of residues of 1,6-bond. The tree structure is exposed superstructure and cleavage residues on the periphery of the molecule. The molecular weight is a few million glycogen, its molecules can aggregate to form structures visible by electron microscopy. Liver glycogen typically contains less than 70 mg / g and muscles – below 15 mg / g, but these values ​​vary depending on the feed and hormonal influences. Damage to the structure of glycogen may be associated with a decrease, and the increase in the branching of the molecule.
Testing to identify carriers of Usher syndrome gene
Usher’s syndrome – a combination of congenital sensorineural hearing loss, slowly progressive pigmentary degeneration of the retina (the beginning of the first or second decade of life), and vestibular disorders. Also observed glaucoma, cataract, nystagmus, macular degeneration, mental retardation, psychosis. It occurs in 1 out of 6,000 children. There are three types of symptoms:
• I type – congenital profound deafness and vestibular violation, early retinitis pigmentosa;
• II type – late onset of pigmentary degeneration of the retina and the preservation of vestibular function;
• III type – benign, is rare and is characterized by a slow worsening of visual and hearing impairment.
Testing to identify those genes nemaline myopathy
Nemaline myopathy (from the Greek. Pet – thread) – thread-like inclusions in the muscle fibers. The histological study using conventional hematoxylin-eosin stained hard, but are easy to detect with special staining techniques. This does not include foreign-calf, and the structure, consisting of an excess amount of material Z-bands with similar ultrastructure.
Nemaline myopathy can be inherited in an autosomal dominant and autosomal recessive manner, described form of the disease in girls with X-linked dominant inheritance. Gene is an autosomal dominant form of nemaline myopathy mapped to chromosome 1 locus 1r21-23. This gene (TRMZ) responsible for the synthesis of tropomyosin 3 – an important component of Z-bands. The more common autosomal recessive form is caused by an abnormality in the gene locus 2q21.2-q22, which determines the synthesis of nebulin, large molecules which also serve as a necessary component of the Z-bands.

Testing to identify the disease gene with the smell of maple syrup urine
Genetically heterogeneous disease, which is associated with a deficiency of the enzyme complex dehydrogenases * ketokislot side chains (BCKAD). The composition includes BCKAD 4 subunit (E1a, E1b, E2, and E3). Mutations in three genes that encode these proteins are likely to disrupt the cleavage of branched amino acids and accumulation of the corresponding branched organic ketoacids in biological fluids and tissues. The gene encoding the E1a subunit (BCKDHA) mapped to 19q13.1-q13.2), a subunit of E1b (BCKDHB) maps to 6q14), E2 (DBT) (mapped to 1p31), E3 (DLD) maps to 7q31-q32. Mutations in the E3 (DLD) cause disease in the clinical picture, similar to the syndrome of Lee.
Testing to identify carriers of the gene Joubert syndrome
Joubert syndrome is a genetic disorder caused by hypoplasia or complete absence of the cerebellar vermis, normally responsible for the proper co-ordination and balance. For this disease is also characterized by abnormal movements of the tongue and eyes, shortness of breath, until it stops, as well as renal failure and decreased muscle tone in infants.
A study in genetic and metabolic compartments Jerusalem medical center “Hadassah”, showed that Ashkenazi Jews are frequent carriers of the gene is inherited and which leads to the birth of children with Joubert syndrome. One out of every ninety two Ashkenazi Jews carries this gene.
Testing to identify the gene of congenital and progressive degeneration of the brain and cerebellum
If this anomaly cerebellum reduced in volume; changes sharply expressed in the cortex, but suffers white solid. First vrozh¬dennaya atrophy of the cerebellum has been described Battenom called kongenitale cerebellare ataxie. It is characterized by the belated development of motor function due to severe cerebellar disease. Children later begin to sit, stand, walk and talk. When attempting to walk with profound ataxia, unsteady gait and swinging sideways. Already in per¬vye months of life is celebrated intentsionnogo jitter upper konech¬nostey swinging head and body, sometimes blurred nystagmus. Late developing speech differs slowness and monotony, along with words like these would be hard pushed and it has tolch¬koobrazny character. Sometimes there is difficulty swallowing, oso¬benno solid food. Pyramidal symptoms and effects chuvstvitel¬nosti usually absent.
Testing to identify gene microcephaly
Microcephaly – underdevelopment of the skull and brain, accompanying mental retardation and neurological disorders. Microcephaly characterized by the small size of the skull, early occlusion of the cranial sutures and closing fontanelle, convulsive syndrome, delayed motor development, intellectual defect, hypoplasia or absence of speech. Diagnosis of microcephaly based on data from anthropometry, craniography, CT and MRI of the brain, EEG, NSG; possible prenatal detection of microcephaly in the fetus. When microcephaly symptomatic treatment and rehabilitation measures aimed at socializing the child.
Testing to identify gene limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy – a whole group of muscle diseases. At the moment, we know 15 genetically different diseases that primarily affect the muscles of the thigh and the shoulder girdle (ie, the proximal muscles -nearest to the center of the body; distal muscles – far from the center of the body can sometimes also be affected, but in the later stages) . Most responsible for limb-girdle muscular dystrophy (LGMD) genes are known, but the way the errors in these genes lead to the emergence of symptoms is not clear.
Approximately 90% of LGMD is inherited as an autosomal recessive disorder. A person with an autosomal recessive type of LGMD both parents are carriers of the “wrong” genes, but they do not get sick. If 2 “wrong” parent gene found in the body of the child, the child is ill. It is known that in some cases, the disease results from a spontaneous gene mutation occurred in a person’s lifetime. Guilt that may be unfavorable environmental conditions, and transferred infection, trauma, etc..
Testing to identify gene connexin
Connexin – gene mutation can lead to hearing defects, often occurring in the population (incidence 1: 1000). 60% of these disorders are caused by genetic factors. Two major gene causing hearing loss, it Connexin 26 and Connexin 30.
In 50% of cases of deafness caused by genetic factors, caused by mutations of the gene 26.
In Israel, the incidence of carriers of mutations in the gene Connexin 26 in the Ashkenazi community of up to 7.5%.