Genica Genetic Testing in Pediatrics
Children's Health

Genetic Testing in Pediatrics

Genetic testing in pediatric patients is used to solve several clinical problems. These problems can range from acute respiratory infections to syndromic features such as developmental delay, mental retardation, autism spectrum disorders, neurodevelopmental disorders, short stature and delayed puberty to more specific diseases, such as cystic fibrosis.

In children, respiratory infections are the most common reason for seeing a doctor. Tests that identify the form of infection (viral, bacterial, or mixed etiology) supports infections control and informative decision whether an antibiotic is needed.

Newer laboratory methods are fast, highly sensitive and specific, and are gradually replacing conventional microbiological techniques.

Genetic analysis offers a set of tests to diagnose syndromic or suspected genetic diseases in children associated with different gene variants or chromosome changes.

Our range of pediatric tests is extensive and is continuously updated.  Contact us if you cannot find a specific test you need.

Genetic Panel for Predisposition to Overweight

Childhood Obesity

Overweight and related problems are becoming increasingly important in clinical practice worldwide. Overweight and obese patients show an increased risk of developing one or more serious diseases such as hypertension, dyslipidemia, cardiovascular disease, and diabetes. The genetic panel for predisposition to overweight and obesity in early childhood is based on individual genetic differences in fat and carbohydrate metabolism, fat absorption, regulation of insulin and leptin, and regulation of appetite. The analysis involves study of genetic variations, marked as the most important in the genetic map of this pathology in childhood.

We also offer screening for mutations in syndromic and non-syndromic obesity in early childhood. Mutations in certain genes are associated with this disorder and cause extreme hunger and increased appetite (hyperphagia).

Diagnostic Range: FTO, APOA2, FABP2, ADRB2, MC4R, SH2B1

Diagnostic Method: Sanger sequencing

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 300 / BGN 800

Clinical application

Childhood obesity; Eating disorders; Metabolic disorders

Personalized Nutrition Plan

Metabolism and Development

Genetic panel Metabolism and development provides an individual approach in children with neurological symptoms, autism, developmental problems, metabolic diseases and more. The panel includes analysis of variants located in genes of important metabolic pathways associated with changes in neurotransmitter and methylation cycles, with a predisposition to vitamin, mineral and choline deficiencies, with improper detoxification, and with a risk of histamine intolerance. The panel provides a systematic approach and supports the course of treatment in order to improve the quality of life.

Diagnostic Range: Brain and intestinal neuromediation - metabolism of dopamine and serotonin; Proper methylation; Vitamins - proper absorption of vitamins B6, B9 (folic acid); B12 and vitamin D; Detoxification; Choline deficiency; Histamine intolerance

Diagnostic Method: Sanger sequencing/ RFLP

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 1,000

Clinical application

 Autism; Generalized developmental disorders with unknown cause; Metabolic disorders; Eating disorders 

Detection of Viral and Bacterial Genome with Respiratory Tropism

Respiratory Infections

In the last few years, with the development of new analyzes and the availability of updated tests for newer strains of pathogens, the diagnosis of respiratory infections has significantly developed. Newer laboratory methods are fast, highly sensitive and specific, and are gradually replacing conventional gold standards. Nucleic acid amplification tests (PCR) for respiratory viruses are already used to detect both conventional and emerging viruses. These tests are more sensitive than other diagnostic approaches, with the PCR method forming the backbone of clinical virological laboratory tests. It allows up to 21 different viruses to be detected in one test, distinguishing between emerging viruses, such as SARS-CoV-2 (COVID-19), influenza and cold. To see our tests please click HERE

Diagnostic Range: Acute respiratory viral and bacterial infections

Diagnostic Method: PCR assay

Research Material: Nasopharyngeal specimen; Oropharyngeal specimen; Sputum; Bronchoalveolar lavage

Results within: 1 business day

Fee: From BGN 70 to BGN 190, depending on the test selected

Clinical application

 COVID-19; Influenza A and Influenza B; Non-influenza acute viral respiratory infections,; Bacterial respiratory infections 

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New Generation Allergy Test

Allergies

Allergy tests are used to detect if the blood contains antibodies to a particular substance, such as peanuts or pollen, for example. These antibodies are called immunoglobulin E or IgE antibodies. If a person's blood contains IgE antibodies, specific to a particular substance, it means that he/she is allergic to that substance. These antibodies cause rashes, itching, sneezing and other symptoms. To see the different allergy tests, please click HERE.

Diagnostic Range: From 20 to 282 allergens

Diagnostic Method: Enzyme Allergo-Sorbent Testing

Research Material: 1-4 ml venous / capillary blood in a serum tube

Results within: 5-7 business days

Fee: BGN 110 - BGN 340, depending on the number of allergens tested

Clinical application

 Urticaria; Eczema; Anaphylaxis; Asthma; Allergic rhinitis; Atopic dermatitis. 

Food Hypersensitivity Tests

Food intolerances

Unlike classic allergies, where IgE antibodies are formed for rapid allergy, food intolerances produce IgG antibodies, that cause a delayed type of reaction. The condition is also called "food hypersensitivity". When that happens, specific IgG antibodies are formed, and they accept certain dietary proteins as foreign antigens. The result is a delayed immune response - within a few days. 

To see the tests types we offer, please click HERE

Diagnostic Range: From 24 to 216 food intolerances

Diagnostic Method: Enzyme Allergo-Sorbent Testing

Research Material: 1-4 ml venous / capillary blood in a serum tube

Results within: 3-5 business days

Fee: From BGN 190 to BGN 690

Clinical application

Urticaria; Dermatitis; Acne; Itching; Asthma; Persistent cough; Constant hunger; Swelling of the abdomen; Intestinal rumbling; Constipation or diarrhea; Headache; Migraine; Sleep disorders; Fatigue. 

Genetic Testing for Hereditary Neuromuscular Diseases

Muscular Dystrophy, Duchenne Type (DMD) or Muscular Dystrophy, Becker Type (BMD)

Duchenne / Becker muscular dystrophy is an X-linked inherited neuromuscular disease that occurs primarily in boys. Muscular dystrophy, type Duchenne (DMD) is characterized by progressive degeneration and muscle weakness, usually beginning after the age of 3 years. The average life expectancy is 17 years. 

The muscular dystrophy, Becker type (BMD) is similar to DMD but has a later onset (during puberty or thereafter) and a milder clinical presentation. DMD / BMD are caused by mutations in the largest human gene - DMD, which is responsible for the production of the protein dystrophin. Most commonly, mutations are of the deletion type and involve one or more of the 79 coding exons of the gene. In much fewer cases, point mutations are detected. 

There is still no effective treatment, and the therapy is mainly symptomatic. The risk of giving birth to a boy with muscular dystrophy types Duchenne / Becker muscular dystrophy in a family in which the partner is a carrier is 50%. The only prevention is to perform a prenatal diagnosis.

Diagnostic Range: DMD (Dystrophin)

Diagnostic Method: MLPA to search for deletions of exons of the DMD gene; Sanger sequencing to search for point mutations and small deletions in the DMD gene

Research Material: Venous or capillary blood with K2EDTA (purple tube)

Results within: 10 business days

Fee: BGN 800 - MLPA; BGN 3,200 - Sanger sequencing of the entire DMD gene

Clinical application

Confirmation of the clinical diagnosis; Carrier testing for females - maternal lineage relatives

Genetic Analysis for the Determination of SMN1 / SMN2 Copy Numbers

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is an inherited condition due to a lack (so-called deletion) of a specific part of both copies of the SMN1 gene. Degeneration of motor neurons, muscle weakness and progressive disability are observed. There are several forms. Type 1 affects children in early childhood, and the outcome is lethal before their first year. Other types of SMA lead to severe disability and an unfavorable outcome at a later stage in the patient's life.

Treatment of SMA is symptomatic and includes mainly rehabilitation and special care by the parents of young patients. The new generation of gene therapy, recently introduced in Bulgaria, gives great hope to the affected families. Prior to its application the genetic analysis is mandatory to determine the number of copies of the SMN2 gene.

Official data on the frequency of SMA carriers in Bulgaria is not available, but according to published data it is 1/45 for Caucasians. Statistically, this is more than 150,000 people in the country.

The risk of giving birth to a child affected by spinal muscular atrophy in a family in which both partners are carriers is 25%.

Prevention includes carrier tests for relatives of the families with a child born with SMA, as well as prenatal diagnosis in the early months of pregnancy in affected families.

Diagnostic Range: SMN1 / SMN2

Diagnostic Method: MLPA for searching deletions of exons 7 and 8 of the SMN1 gene and determining the SMN2 gene copy numbers

Research Material: Venous blood with K2EDTA (purple tube)

Results within: 10 business days

Fee: BGN 800

Clinical application

Confirmation of clinical diagnosis; Carrier testing in unaffected family members; Determining of SMN2 gene copy numbers in patients with SMA in relation to the application of gene therapy

Analysis of CFTR Gene Mutations

Mucoviscidosis / Cystic Fibrosis

Mucoviscidosis / Cystic fibrosis is an inherited, incurable disease with a high incidence among Caucasians. It is due to mutations in the CFTR gene, which leads to disruption of chloride channels on the secretory glands. As a result, excessively thick and sticky mucus is retained and accumulated, that is a favorable environment for the development of pathogenic microorganisms and for frequent infections. Many systems and organs are affected - most often the lungs and the digestive system.

Symptoms may occur before birth (with ultrasound evidence of hyperechogenic intestinal loops in the fetus), after birth (the most common indication is meconium ileus), or in early childhood (with frequent severe lung infections and slow weight gain). The treatment is supportive, and the hope in some cases is in a lung transplant. The average life expectancy of the affected patients is between 12 and 30 years.

The frequency of mutations in the CFTR gene among the Bulgarian population is estimated at 1 in 30 (or about 200,000 persons in the country), and every year an average of 20 children are born affected by this incurable disease.

The risk of giving birth to a child affected by cystic fibrosis in a family with both partners carriers is 25%. The only prevention is search for carriers and prenatal diagnostics.

Diagnostic Range: CFTR

Diagnostic Method: Sanger sequencing to search for point mutations and small deletions in the CFTR gene; MLPA to search for deletions of exons of the CFTR gene

Research Material: Venous blood with K2EDTA (purple tube)

Results within: 10 business days

Fee: BGN 420 - Sanger sequencing to search for the most common CFTR mutations in Bulgaria; BGN 2,600 - Sanger sequencing of the entire CFTR gene; BGN 800 - MLPA

Clinical application

Confirmation of the clinical diagnosis; Carrier testing in unaffected family members