This panel allows you to quickly determine the cause of bacterial, viral and parasitic infections by fecal examination. The result of the analysis is ready on the day of biomaterial submission. The test eliminates the need to perform cultures, antigen tests, microscopy or other tests.

Test benefits:

• Detection of 22 bacterial, viral and parasitic pathogens of intestinal infections in one test.
• Application of PCR method.
• Performed very quickly – within 1-2 hours.

Tests:

• GIP | Gastrointestinal Pathogens Panel, PCR, feces

Also called gluten enteropathy. It is an autoimmune disease characterized by genetically predisposed gluten intolerance with predominant localization in the small intestine. Celiac disease should not be confused with gluten intolerance without celiac disease, against which the development of osteoporosis is possible. Symptoms of celiac disease are nonspecific, so diagnosis plays an important role.

Test benefits:

• Includes serologic and genetic testing.
• Evaluation of leukocyte antigens as an initial test, based on which the diagnosis is removed in almost half of patients.
• Based on the results, the specialist can decide if a biopsy or any imaging techniques are needed.
• Designed to help screen patients who have already reduced gluten in their diet.
• Assists in treatment decision making by determining the immunogenicity of anti-TNF therapy using the leukocyte antigen allele marker DQA1*05.

Tests:

• CDSP | Celiac disease serology cascade, serum
• CDCOM | Celiac Disease Complex Cascade, serum and whole blood
• CDGF | Gluten-free celiac disease cascade, serum and whole blood
• CELI | Celiac disease-associated HLA-DQ Alpha 1 and DQ Beta 1 DNA typing, blood

Liver diseases of metabolic, viral, genetic, autoimmune and malignant genesis affect people of all ages and with a diverse history. Our liver disease panel was developed in collaboration with clinical specialists and covers a large number of pathologies. The results of genetic tests enable physicians to quickly confirm or refute the diagnosis, select effective treatment, and make a prognosis.

Autoimmune liver diseases

These include autoimmune hepatitis, primary biliary cirrhosis, primary scarring cholangitis.

Test benefits:

• Identifies two types of antibodies associated with autoimmune hepatitis and one highly suspicious for primary biliary cirrhosis.
• Increases the quality of conducted liver research and detection of unknown origin diseases.

Tests:

• ALDG2 | Autoimmune Liver Disease Panel, serum

Genetic liver diseases

Alpha-1-antitrypsin deficiency, cholestatic syndrome, Wilson’s disease, lysosomal acid lipase deficiency (LALD).

Test benefits:

• In 97% of cases, testing is sufficient to confirm the diagnosis.
• Identifies mutations in the C282Y and H63D genes that most commonly cause disease.
• The S65C mutation is only reported if it is observed as part of the C282Y/S65C genotype.
• Analysis of the ATP7B gene to confirm the diagnosis of Wilson disease.
• Evaluation of ceruloplasmin levels, which are decreased in 95% of patients with Wilson disease.
• Level I tests to diagnose Wilson’s disease, biliary tract abnormalities, cholangitis, and primary sclerosing cholangitis.

Tests:

• A1ALC | Proteotype alpha-1-antitrypsin S/Z, LC-MS/MS, serum
• SERPZ | SERPINA1 gene, complete gene analysis, varies
• HFET | Hereditary hemochromatosis, HFE variant analysis, varies
• CERS | Ceruloplasmin, serum
• CUS1 | Copper, serum
• CUT Copper, liver tissue
• WNDZ | Wilson disease, complete sequencing of ATP7B gene with deletion/duplication, varies
• LALB | Lysosomal Acid Lipase, blood

Hepatocellular carcinoma

This type of malignant malformation is the  most common in liver. Results from malignization of hepatocytes. Hepatocellular carcinoma is effectively treated in the early stages, but it is difficult to diagnose, and most patients learn about oncopathology when the disease is already in a neglected form and vivid symptoms are present. Genetic tests can identify at-risk patients who need increased surveillance for early diagnosis.

Test benefits:

• In the case of chronical liver disease, it allows to assess the possibility of hepatocellular carcinoma development.
• Monitoring of tumor patients after treatment if des-gamma-carboxy-prothrombin levels were elevated before treatment.
• Differential diagnosis between carcinoma and inflammatory processes.
• Surveillance of individuals with cirrhosis for conversion to hepatocellular carcinoma.
• Individuals observation with a family cancer history.
• Surveillance of the risk of tumor development in individuals of a specific background and gender group who do not have cirrhosis but with a confirmed diagnosis of early-onset acquired chronic hepatitis B.
• Monitoring the effectiveness of treatment.

Tests:

• HCCGS | Hepatocellular carcinoma risk panel with GALAD score, serum
• DCP | Des-gamma-carboxy-prothrombin, serum
• L3AFP | Alpha-fetoprotein L3% and total, tumor marker of hepatocellular carcinoma, serum
• AFP | Alpha-fetoprotein, tumor marker, serum

Metabolic liver diseases

Genetic tests can identify liver diseases from alcoholic and non-alcoholic causes. These include:

• Non-alcoholic fatty liver disease. Uses the FibroTest-ActiTest, a first-line screening test that is based on two diagnostic scales (component tests for six biomarkers).
• Nonalcoholic steatohepatitis. FibroTest, which assesses 10 biomarkers of liver health.
• Alcohol biomarkers direct tests.

Test benefits:

• No risk of false positive and false negative results.
• Diagnosis and monitoring of liver fibrosis (and its stage), steatosis and inflammation.
• Assessing the risk of developing nonalcoholic steatohepatitis in patients with nonalcoholic fatty liver disease and steatosis or fatty liver dystrophy.
• Application liquid chromatography/tandem mass spectrometry (LC-MS/MS) to measure EtG and EtS levels in urine.
• High sensitivity and specificity at low ethanol levels with a detection window of up to five days in urine.

Tests:

• FIBRO | FibroTest-ActiTest, serum
• NSFIB | Nonalcoholic steatohepatitis, FibroTest, serum and plasma.
• ETGR | Ethyl Glucuronide Reflex Screening, random, urine
• PETH | Confirmation of phosphatidylethanol, blood

Hepatitis C

This is a disease that can be acute or chronic. It is caused by the hepatitis C virus, which infects liver. Our genetic tests allow us to diagnose the pathology and select an effective treatment, and the algorithmic approach used gives the most accurate answers, saves time and money.

Test benefits:

• Detection of antibodies to HCV in the blood in symptomatic patients.
• Detection of HCV antibodies in the blood in asymptomatic patients.
• Reversal of HCV RNA confirmation by OT-PCR in the presence of reactive test results.
• Determination of viral load before antiviral therapy and during treatment to monitor response to therapy.
• Detection of antiviral drug resistance using next-generation sequencing.
• Ability to predict the likelihood of response to current drugs used to treat chronic hepatitis C.
• Genotyping to determine antiviral therapy.
• Ability to distinguish between hepatitis C virus subtypes: 1a and 1b.

Tests:

• HCVDX | Antibodies to hepatitis C virus with reflex to HCV RNA by PCR, symptomatic, serum
• HCSRN | HCV antibody screening with HCV RNA reflex by PCR, asymptomatic, serum
• HCVQN | Detection and quantification of HCV RNA by real-time reverse transcription PCR, serum
• HEVG | Hepatitis E virus IgG antibodies, serum
• HEVM | Hepatitis E virus IgM antibody screening with confirmation reflex, serum
• HCVG | Hepatitis C virus genotype, serum
• HCVDR | Genotypic resistance of hepatitis C virus to antiviral drugs, serum

A targeted antibody test can improve the results of selected therapies.

Test benefits:

• Investigation of patients with unexplained weight loss, rapid satiety, anorexia, nausea, vomiting, constipation or diarrhea with a past or family history of cancer or autoimmune disease.
• Targeted search for concomitant oncology.
• Investigation of gastrointestinal symptoms that occur during or after anticancer therapy that are unrelated to recurrence, metastasis, or treatment; 
• Detection of early signs of cancer recurrence in seropositive patients who have elevated titers of 1 or more autoantibodies.

Tests:

• GID2 | Gastrointestinal motility disorder, autoimmune/paraneoplastic evaluation, serum

This pathology is characterized by the loss of one or many nutrients entering the digestive tract due to insufficient absorption in the small intestine. To choose the optimal treatment regimen, it is important to establish the exact cause of the pathology, since malabsorption syndrome is a polyetiological condition. Among the causes are congenital defects, intestinal trauma, celiac disease, lactose intolerance, parasitic diseases, genetic diseases and the intake of certain drugs.

Bile acid malabsorption (chologenic diarrhea)

Secretory diarrhea caused by increased production of bile acids and their excessive entry into the large intestine. The idiopathic form is diagnosed in one in three patients with irritable bowel syndrome and in more than half of cancer patients who have had pelvic radiotherapy and chemotherapy.

Test benefits:

• Ability to make a definitive diagnosis in patients with irritable bowel syndrome.
• The same specimen can be used to perform a fecal fat test.
• 95% specificity and 66% sensitivity of the test for the diagnosis of bile acid diarrhea 2.
• No need to diet before the examination.
• Simplicity for patients as feces can be collected for diagnosis either at home or in the clinic.
• Ability to choose the appropriate treatment regimen.

Tests:

• BA48F | Bile acids, bowel dysfunction, 48 hours, feces
• BAMRP | Bile Acid Malabsorption Panel, serum and feces
• 7AC4 | 7AC4, bile acid synthesis, serum

Vitamin B12 deficiency

Test benefits:

• Evaluation of patients with signs suggestive of disaccharidase abnormalities, which can cause chronic diseases such as celiac disease.
• Measurement of levels of 5 digestive enzymes to detect pathologies affecting carbohydrate digestion.
• Clinical interpretation of results.

Tests:

• DSAC | Disaccharidase activity panel, tissue

Exocrine pancreatic insufficiency

Test benefits:

• Diagnosis of exocrine pancreatic insufficiency if the patient presents with unexplained diarrhea, constipation, steatorrhea, flatulence, flatulence, weight loss, abdominal pain, etc.
• Elastase enzyme levels detection in stool samples.
• Monitoring exocrine pancreatic function in cystic fibrosis, diabetes mellitus or chronic pancreatitis.
• Confirmation of the diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis.
• Identification of genes that contribute to the development of pancreatitis.
• Prognostic and diagnostic testing.

Tests:

• ELASF | Pancreatic elastase, feces
• HPANP | Hereditary pancreatitis gene panel, varies

Chronic diarrhea or involuntary weight loss

Traditional tests usually require several consecutive tests, each requiring a new stool sample. This is not very convenient for patients. Therefore, our lab has developed a panel for the diagnosis of chronic diarrhea or involuntary weight loss that evaluates four markers of the disease with just one stool sample.

Test benefits:

• Useful in pediatric patients.
• Multiple causes of GI abnormalities rapid exclusion.
• Tests for protein loss by evaluating alpha-1-antitrypsin. Also amount of protein lost with stool.
• Calprotectin marker evaluation to diagnose intestinal mucosal inflammation.
• Evaluation of pancreatic elastase enzyme, which indicates the body’s ability to digest certain proteins and carbohydrates.
• Tests for carbohydrate malabsorption or glucose or fructose malabsorption.

Tests:

• MALP | Malabsorption Assessment Panel, feces
• A1AF | Alpha-1-antitrypsin, random, feces
• CALPR Calprotectin, fecal.
• ELASF Pancreatic elastase, feces.
• UREDF | Reduced substances, feces

Our laboratory has developed panels for the diagnosis of younger patients as well. The genetic menu presented allows us to determine the presence of inherited diseases and to give insight into the genetic variations associated with these pathologies.

Treatment monitoring and management

We use a reflexive testing approach to assess immunogenicity and monitor the emergence of anti-drug antibodies. First, the biological concentration in the patient sample is measured. Then, if necessary, another test is performed to assess the presence of antibodies to the specific drug the patient received. The results help health care providers determine if patients are losing their response to a particular treatment.

Test benefits:

• Evaluating the effectiveness of treatment, which helps doctors choose the best dosage of medications.
• Immunogenicity clarification to therapy plan correction.

Tests:

• ADALX | Adalimumab quantitative with antibody reflex, serum
• INFXR | Infliximab quantification using antibodies to infliximab, serum
• VEDOL | Vedolizumab quantification with antibody reflex, serum
• USTEK | Quantification of ustekinumab with antibody, serum 
• VEDOZ | Quantification of vedolizumab with antibody, serum 
• ADALP | Adalimumab quantification with antibody, serum
• INFXP | Quantification of infliximab with antibodies to infliximab, serum

Celiac disease in children

Test benefits:

• Includes serologic and genetic testing.
• Evaluation of leukocyte antigens as an initial test, based on which the diagnosis is removed in almost half of patients.
• Based on the results, the specialist can decide if a biopsy or any imaging techniques are needed.
• Designed to help screen patients who have already reduced gluten in their diet.

Tests:

• CDSP | Celiac Disease Serology Cascade, serum
• CDCOM | Celiac Disease Comprehensive Cascade, serum and whole blood.
• CDGF | Gluten-free celiac disease cascade, serum and whole blood
• CELI | Celiac disease-associated HLA-DQ Alpha 1 and DQ Beta 1 DNA typing, blood

Helicobacter infection in children

This is the colonization of stomach by the bacterium H. pylori. As a result chronic inflammation appears. And a risk of gastroduodenal disease  increases.

Test benefits:

• Real-time polymerase chain reaction application.
• Ability to select drugs to which the bacterium Helicobacter pylori will be sensitive.
• Identification of the Helicobacter pylori 23S ribosomal RNA gene and the 3 most common single nucleotide variations of the 23S ribosomal RNA gene (A2143G, A2142G and A2142C) that lead to clarithromycin resistance.
• Only breast test can confirm the diagnoses.

Tests:

• HPFRP | Prediction of Helicobacter pylori resistance to clarithromycin, molecular detection, PCR, feces 
• UBT | Helicobacter pylori breath test
• HELIS Helicobacter pylori culture with antimicrobial sensitivity, varies.
• HPCRP | Helicobacter pylori with predicted clarithromycin resistance, molecular detection, PCR, varies

Hereditary GI diseases

Test benefits:

• Confirmation of the diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis.
• Identification of gene mutations that contribute to the development of pancreatitis in the patient or family members.
• Diagnosis of hereditary GI cancer syndrome or hereditary polyposis syndrome, targeted surveillance with consideration of associated risks.
• Determination of molecular diagnosis in patients with cholestasis.
• Identification of gene variants associated with cholestasis, allowing screening of at-risk family members.

Tests:

• HPANP | Hereditary pancreatitis gene panel, varies
• CRCGP | Hereditary gastrointestinal cancer panel, varies
• CHLGP | Cholestasis gene panel, varies

Inflammatory Bowel Disease

Test benefits:

• Can replace a range of imaging tests during diagnostic workup.
• Useful for children with early-onset inflammatory bowel disease, which typically occurs before age 6 years.
• Identifies genetic variants in 107 genes known to be associated with inflammatory bowel disease and immunodeficiency.
• The fecal calprotectin test has a sensitivity and specificity of approximately 85%.
• Therapeutic algorithms developed using fecal and C-reactive protein assessment show superior results compared to those based on clinical management alone in children with Crohn’s disease.
• Can monitor the effectiveness of biologic therapy.
• Tests only specific antibody patterns with proven clinical utility, including Saccharomyces (IgA and IgG) and neutrophil-specific antibodies (perinuclear antineutrophil cytoplasmic antibodies [pANCA]).
• Particularly useful for differentiating Crohn’s disease from ulcerative colitis in the pediatric population.
• Includes tests for genes associated with rare diseases such as Mediterranean fever.

Tests:

• CALPR | Calprotectin, stool
• IBDP2 | Inflammatory bowel disease serology panel, serum
• EOIBD | Early-onset monogenic inflammatory bowel disease gene panel, variable

Intestinal infections in children

Test advantages:

• Detects 22 bacterial, viral and parasitic pathogens of intestinal infections in one test.
• Uses PCR method.
• Very fast – within 1-2 hours. 

Tests:

• GIP | Gastrointestinal pathogens panel, PCR, stool

Malabsorption Syndrome in Children

Test advantages:

• Particularly useful for children.
• Protein loss tests by assessing alpha-1 antitrypsin and the amount of protein lost in the stool.
• Calprotectin marker assessment to diagnose inflammation of the intestinal mucosa.
• Pancreatic elastase enzyme assessment, which indicates the body’s ability to digest certain proteins and carbohydrates.
• Carbohydrate malabsorption tests or glucose or fructose malabsorption.
• Endoscopy tissue samples to obtain quantitative values ​​for lactase, sucrase, maltase, platinase, and glucoamylase.

Tests:

• MALP | Malabsorption Panel, Feces
• A1AF | Alpha-1 Antitrypsin, Random, Feces
• CALPR | Calprotectin, Feces • ELASF | Pancreatic elastase, faeces
• UREDF | Reduced amounts of substances, faeces
• DSAC | Disaccharidase activity panel, tissue

Monitoring thiopurine therapy in children

Test advantages:

• Results can be used to assess thiopurine metabolism.
• Non-invasive and child-friendly biomaterial collection option – saliva sample.
• Assessment of TPMT and NUDT15 genes. Inclusion of the NUDT15 gene in the test is especially important in the treatment of patients from East Asia, South Asia and Native Americans.
• Optimization of therapy by detecting high concentrations of metabolites.
• Monitoring the response to the treatment, monitoring for signs of toxicity.

Tests:

• PMT3 | Thiopurine methyltransferase activity profile, red blood cells
• TPNUQ | Genotyping of thiopurine methyltransferase (TPMT) and nudixhydrolase (NUDT15), varies
• THIO | Thiopurine metabolites, whole blood.