Genica Genetic Tests for Gastrointestinal Diseases
Gastroenterolgy

Genetic Tests for Gastrointestinal Diseases

Rapid advances in genetics have led to an increased understanding of the genetic determinants of human disease, including many gastrointestinal disorders. 

A number of inherited syndromes affect the gastrointestinal tract, including Lynch syndrome and other hereditary colorectal cancers, hereditary polyposis, hereditary gastric cancer, hereditary pancreatic cancer, and hereditary pancreatitis. Recognition and diagnosis of these syndromes are paramount because individuals and family members can be offered life-saving screening, risk-reducing surgeries, and other therapies. Genetic counseling and testing are critical components of risk assessment and diagnosis of inherited syndromes. 

Identification of All Bacterial Species in the Intestinal Tract

Microbiome MINI

Microbiome MINI involves molecular genetic diagnosis to identify all bacterial species inhabiting the intestinal tract. It covers over 250 parameters, used to determine biodiversity, condition and permeability of the intestinal mucosa, the formation of functional groups (equol, butyrate, histamine, hydrogen sulfide), parasites presence. Valuable information about a person's health and lifestyle can be obtained depending on the microbiome condition. 

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide).

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 378

Clinical application

 Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity 

Determination of Bacterial Species and Parasites in the Intestinal Tract

Microbiome MIDI

The Microbiome MIDI genetic panel is an extension of Microbiome MINI panel and additional types of parasites (Giardia lamblia, Entamoeba histolytica, etc.) are included.

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide); Additional types of parasites.

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 459

Clinical application

 Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity 

Determination of Bacterial Species and Parasites in the Intestinal Tract

Microbiome MAXI

The Microbiome MAXI genetic panel is an extension of Microbiome MIDI panel and additional species of the genera Actinobacteria and Clostridia; Hydrogen sulfide producing bacteria and Oxalate - degrading bacteria are included.

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi, and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide); Additional types of parasites; Additional species of Actinobacteria, Clostridia; Additional species of hydrogen sulfide-producing bacteria; Oxalate - degrading bacteria

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 507

Clinical application

Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity

Genetic Test for Hereditary Hyperbilirubinemia bilirubin

Gilbert's Syndrome

Gilbert's syndrome (GS) is the most common inherited hyperbilirubinemia. A genetic defect that results in decreased enzyme functionality in the liver is being tested. Homozygous carriers of the genetic defect show elevated levels of total and unconjugated (indirect) bilirubin. This is not always associated with the presence of symptoms, but most often manifests itself in moderate jaundice, chronic fatigue, headache, intolerance to fatty foods, epigastric pain. Some patients show chronic or recurrent symptoms, while others find out by accident during routine blood test they have GS. Complaints registered are related to other endogenous or exogenous factors, such as infectious disease, stress, etc.

Diagnostic Range: UGT1A1

Diagnostic Method: Fragment analysis

Research Material: 6 ml venous blood

Results within: 10 business days

Fee: BGN 150

Used in

Gilbert's syndrome; Elevated bilirubin level

Determination of Genetic Risk for Fatty liver Development

Hepatic Steatosis

The analysis of polymorphisms in genes involved in lipid metabolism (e.g. PNPLA3, GCKR, TM6SF2) is suitable for assessing the genetic risk of fatty liver development and progression in children and adults with liver disease ranging from non-alcoholic liver disease to hepatic steatosis. It could also be used as a prognostic marker in patients with other liver diseases, as well as in people with a family history but still without symptoms.

Diagnostic Range: Genetic variants in PNPLA3, GCKR, TM6SF2

Diagnostic Method: Sanger sequencing / PCR

Research Material: 6 ml venous blood

Results within: 5-10 business days

Fee: BGN 150

Clinical application

Hepatic steatosis; Fatty liver

Enzyme Testing

IDO Activity

Indolamine-2,3-dioxygenase is an enzyme that metabolizes the amino acid tryptophan (TRP) and kynurenine. It occurs in a number of tissues and cells, such as the small intestine, lungs, female genital tract or placenta.

IDO is an important part of the immune system and plays a role in the natural defense against various pathogens. It is produced by cells in response to inflammation and has an immunosuppressive function due to its ability to limit T cell function and to involve mechanisms of immune tolerance. IDO activity is low under normal physiological conditions, but is dramatically increased by the presence of proinflammatory cytokines such as interferon-γ. This short-term activation of IDO occurs as part of the innate immune response and helps inhibit the growth of pathogens and parasites.

Diagnostic Range: Quantification of Indolamine-2,3-Dioxygen activity; Tryptophan; Kynurenine

Diagnostic Method: ELISA

Research Material: 2 ml of serum

Results within: 15-20 business days

Fee: BGN 168

Clinical application

Arthritis; Alzheimer's; Atherosclerosis; Osteoporosis; Diabetes; Crohn's disease; Ulcerative colitis

Genetic Panel

Disorders of Digestion and Absorption

The Disorders of digestion and absorption panel includes quantification of the presence of digestive residues, pancreatic function, bile acid secretion, and other parameters that may affect the integrity and permeability of the intestinal mucosa.

Diagnostic Range: Digestive residue - fat, nitrogen, sugar, water; Pancreatic elastase; Bile acids; Calprotectin; Alpha1-antitrypsin; Secretory immunoglobulin A.

Diagnostic Method: ELISA

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 176

Clinical application

Metabolic disorders; Intestinal inflammation (Crohn's disease; Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity

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 600 - 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

Impaired Histamine Degradation

Histamine Intolerance

A wide range of foods are naturally rich in histamine or release high levels of histamine during storage. Diamine oxidase (DAO) is an intestinal enzyme that normally destroys histamine contained in food. Therefore, even after consuming foods rich in histamine, no symptoms are observed. In carriers of genetic variants, DAO deficiency is observed, and undigested histamine is unnecessarily absorbed, exhibiting various symptoms.

Gastrointestinal symptoms: diarrhea, irritable bowel syndrome (IBS), chronic constipation, gas, stomach pain, vomiting.

Symptoms affecting the head and face: redness of the face and / or chest (a very common symptom), migraine-like headache, Quincke's edema (swelling that occurs mainly around the eyes and lips, sometimes in the throat).

Respiratory problems: asthma, stuffy nose and watery eyes.

Skin complaints: rash, eczema, urticaria, acne.

In women: dysmenorrhea. The symptoms of HIT disappear during pregnancy and return after birth.

Other symptoms: wheezing, sleep disorders, arrhythmia, mood swings - from fatigue to irritability and aggression.

Diagnostic Range: DAO; HNMT

Diagnostic Method: Sanger sequencing

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

Results within: 10 business days

Fee: BGN 200

Clinical application

Histamine intolerance