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Video capsule endoscopy — Examination of the entire GI tract without probes, pain or anesthesia
Video capsule endoscopy is an examination of the gastrointestinal tract using a special capsule with a built-in video camera that the patient swallows like an ordinary pill. The capsule travels through the GI tract on its own and leaves the body naturally. The method makes it possible to examine sections of the intestine that conventional gastroscopy and colonoscopy cannot reach — above all the small intestine.
Who the examination is for
The device is intended for diagnosing GI-tract conditions, especially in the following groups of patients:
- Pain of unclear origin with normal gastroscopy and colonoscopy results
- Iron-deficiency anemia of undetermined origin
- Searching for the source of intestinal bleeding
- Enteritis and NSAID enteropathy
- Crohn’s disease
- Celiac disease
- Tumors and polyps of the small intestine
- Hereditary polyposis syndromes (Peutz–Jeghers syndrome)
- When the patient declines EGD and colonoscopy, or when performing them is otherwise difficult
What the service includes
- A single-use video capsule with a built-in camera: 2 images per second along the entire GI tract.
- Paperwork, a consultation with a specialist doctor and placement of the recorder sensors.
- Recording of the examination for 9–10 hours onto a device fixed to the patient’s belt.
- Analysis of the captured images by a doctor in dedicated software.
- A doctor’s report on the results of the examination.
How the examination works
01. You swallow the capsule
The patient swallows a video capsule the size of an ordinary pill.
02. The camera films the GI tract
As it passes through the GI tract, the device takes 2 images per second and transmits them to a recorder attached to the patient’s body.
03. Recording for 9–10 hours
The examination is recorded over 9–10 hours while you go about your usual activities.
04. The capsule passes on its own
After the examination the capsule passes painlessly and naturally, and the patient returns to the clinic with the recorder.
05. The doctor’s report
The doctor analyzes the captured images in dedicated software and issues a report.
The examination is completely comfortable for the patient — no probes, pain or anesthesia.
What the examination can detect
Inflammation of the mucosa
Acute and chronic gastritis, mucosal ulcers, erosions.
Chronic bowel diseases
Ulcerative colitis, Crohn’s disease, celiac disease.
Neoplasms
Polyps of the stomach and intestine — single and multiple, benign and malignant. Carcinoid (a small-intestine tumor).
Contraindications
Absolute
Intestinal strictures (narrowing) after surgery. Confirmed intestinal stenosis or obstruction. Marked motility disorders, pseudo-obstruction. A need for MRI. Age under 18.
Relative
Dysphagia. Pregnancy. An implanted pacemaker or defibrillator. Patients at high risk of complications.
The list follows the centre’s physician memo. The decision to perform the examination is made by the doctor.
Cost and booking
Cost
Check the cost of the examination and booking terms by calling the centre during business hours — the price list is not published on the site.
Booking by phone
8 771 103 70 02 and 8 771 103 70 03, Mon–Fri 08:00–17:00. Hours on public holidays may differ.
You can message us on WhatsApp at 8 771 103 70 03.
Preparing for the examination
Preparation is mandatory
failing to follow the preparation rules sharply reduces the capabilities of endoscopic diagnostics and may require repeat preparation and a repeat examination.
Iron supplements
stop taking iron supplements 5–7 days before the examination.
Diet the day before
on the day before the examination — only liquid food: broth, yogurt, clear juices without pulp, water, tea, coffee.
Fasting window
do not eat or drink for 10 hours before the examination, except for necessary medicines taken with a sip of water.
Bowel cleansing
the day before, take the medication “Fortrans” according to the schedule in the patient memo.
On the day of the examination
2 hours after swallowing the capsule clear liquids are allowed, after 4 hours — a light snack. Keep switched-on mobile devices and Wi-Fi more than 50 cm from the recorder.
Full schedule
a detailed patient memo is available in the “Documents” section of this page. The centre’s doctor will agree the preparation procedure with you.
Have questions? Book a consultation with a specialist.
Book a visitLiver fibroscanning — Non-invasive assessment of steatosis and fibrosis on a FibroScan device
Liver fibroscanning is an advanced diagnostic method that lets you quickly and accurately assess the condition of your liver and determine the degree of fibrosis and steatosis. The examination is painless and causes no discomfort. The Respublikanskiy Tsentr Zdorovya uses an expert-class FibroScan — the only one in Kazakhstan; it is recommended by leading WFUMB and EFSUMB specialists and complies with EASL standards.
Who the examination is indicated for
It is worth having the examination if you have at least one of the risk factors:
- Annual screening for prevention
- Elevated ALT, AST, bilirubin
- Excess weight and fatty liver disease
- Viral hepatitis B or C
- Alcohol or toxic burden on the liver
- Diabetes mellitus and metabolic syndrome
- Long-term use of medications
What the service includes
- Measurement of liver stiffness and determination of the fibrosis stage.
- Assessment of the degree of steatosis — the accumulation of excess fat in liver cells.
- Examination on an expert-class FibroScan device.
- Examination results in hand within 10–15 minutes.
- The examination is carried out by a professional team of experienced doctors and medical staff.
How the examination works
No pain or discomfort
The examination is performed externally, through the skin. No probes or anesthesia are needed — this is especially important for patients who find EGD or colonoscopy difficult.
10–15 minutes
The examination result is handed to you within 10–15 minutes.
Can be repeated
The method is non-traumatic and allows the examination to be repeated many times — to monitor the liver over time.
Early stage
The examination helps catch the disease at an early stage while it is still silent: up to 90% of liver diseases develop without symptoms.
An expert-class device
The only one in Kazakhstan
The FibroScan used at the centre is the only expert-class device in Kazakhstan.
International recommendations
The device is recommended by leading specialists of WFUMB and EFSUMB — the World and European federations for ultrasound in medicine and biology.
EASL standards
The device complies with the standards of EASL — the European Association for the Study of the Liver.
Data accuracy
The expert-class device delivers the highest level of data accuracy and reliability.
Cost and booking
Cost
Check the cost of fibroscanning and booking terms by calling the centre during business hours — the price list is not published on the site.
Booking by phone
8 771 103 70 02 and 8 771 103 70 03, Mon–Fri 08:00–17:00. Hours on public holidays may differ.
You can message us on WhatsApp at 8 771 103 70 03.
Preparing for the examination
On an empty stomach
it is recommended to have the examination on an empty stomach.
Water
you may drink water — still water only.
Fasting window
must be at least 4 hours.
Have questions? Book a consultation with a specialist.
Book a visitLiver fibroscanning in children — Early detection of fatty liver disease with a dedicated pediatric probe
Fatty liver disease (steatosis) is the accumulation of fat in liver cells. It is becoming more common in children, and for a long time the disease shows no signs. Liver fibroscanning is a safe and accurate method of early diagnosis. The expert-class FibroScan used at the Respublikanskiy Tsentr Zdorovya is unique in Kazakhstan and the only one in Astana to have a dedicated probe for examining children.
Who the examination is indicated for
It is worth having the examination if the child has risk factors for fatty liver disease:
- Excess weight
- Poor diet: fast food and convenience foods, sugary carbonated drinks and juices with added sugar, too many sweets and baked goods, not enough vegetables, fruit and fiber
- Lack of physical activity and long hours of a sedentary lifestyle
- Insulin resistance
- Genetic factors: obesity, type 2 diabetes or liver disease in the parents
What the service includes
- Examination with a dedicated pediatric FibroScan probe.
- Assessment of the degree of liver steatosis and fibrosis in the child.
- Examination results in hand within 10–15 minutes.
- The examination is carried out by a professional team of experienced doctors and medical staff.
Why it matters
It stays hidden
For a long time the disease has no symptoms — the child looks healthy.
Consequences
It can lead to fibrosis, cirrhosis and even liver failure.
Metabolism
It affects the child’s metabolism and overall health.
Only regular liver fibroscanning helps avoid serious consequences.
The pediatric probe
The only one in Astana
A dedicated probe for examining children is available only at our centre — the only one in Astana.
Safe
The method is non-traumatic and safe for children and adults, and allows the examination to be repeated many times.
Fast
The result is handed to you within 10–15 minutes.
Data accuracy
The expert-class device delivers the highest level of data accuracy and reliability.
Cost and booking
Cost
Check the cost of the examination and booking terms by calling the centre during business hours — the price list is not published on the site.
Booking by phone
8 771 103 70 02 and 8 771 103 70 03, Mon–Fri 08:00–17:00. Hours on public holidays may differ.
You can message us on WhatsApp at 8 771 103 70 03.
Preparing for the examination
On an empty stomach
it is recommended to have the examination on an empty stomach.
Water
you may drink water — still water only.
Fasting window
must be at least 4 hours.
Have questions? Book a consultation with a specialist.
Book a visitCancerPrecision® — Molecular genetic tumor analysis for personalized treatment decisions
Every tumor is as individual as the person in whom it developed. CancerPrecision® determines the genetic profile of your tumor and identifies changes relevant to treatment selection. Testing is performed at the accredited CeGaT GmbH laboratory in Tübingen, Germany, and CePreO provides the clinical report to you and your treating physician.
Who is it for?
- Selecting targeted therapy or immunotherapy
- Disease progression during current treatment
- Searching for options for rare tumors
- Planning participation in clinical trials
What the service includes
- Analysis of more than 700 genes associated with cancer.
- Detection of single-nucleotide variants, insertions, deletions, copy-number changes and gene fusions.
- Determination of TMB, MSI and HRD, as well as screening for selected oncogenic infections.
- Comparison of tumor material with the patient's normal DNA.
- Clinical interpretation and a list of therapeutic options associated with the identified biomarkers.
Test characteristics
Scope and depth
More than 700 cancer-related genes, gene fusions in more than 30 genes, SNVs, insertions, deletions and copy-number changes.
Sequencing depth
Average coverage of 500–1,000× enables detection of subclonal changes, including mechanisms of drug resistance.
Panel size
2.13 Mb, exceeding the recommended minimum of 1.5 Mb for assessment of tumor mutational burden.
Sensitivity and specificity
Sensitivity above 97.6% and specificity above 99.9%.
Biomarkers in a single test
TMB
Tumor mutational burden with the exact number of mutations per megabase.
MSI
Microsatellite instability.
HRD
Homologous recombination deficiency: an integrated score based on loss of heterozygosity, telomeric allelic imbalance and large-scale chromosomal transitions.
Oncogenic infections
HPV, EBV, MCV, CMV, H. pylori and HBV.
What sample is required?
Tumor tissue containing at least 20% tumor cells: an FFPE block of at least 5 × 5 × 5 mm, at least 10 unstained sections, more than 200 ng of extracted tumor DNA, or fresh-frozen tissue.
For comparison with normal DNA
1–2 ml of blood in an EDTA tube or 1–2 µg of genomic DNA.
For liquid biopsy
three specialized 10 ml cfDNA tubes. The tube type, including Streck, and sample suitability must be agreed with the laboratory in advance.
Frequently asked questions
Is a repeat biopsy required?
A repeat biopsy is not always required: the existing paraffin block is assessed first. The number of tumor cells, DNA preservation, fixation conditions, and the specimen's suitability for the current clinical question are important. CeGaT specifies a tumor cell content of at least 20% for standard tissue analysis. The published requirements do not set a universal rule that the "block must be less than one year old"; suitability is confirmed before shipment.
Why is blood needed if the tumor is being tested?
Blood serves as a source of normal, non-tumor DNA for comparison with tumor DNA. This helps distinguish acquired changes from potential hereditary variants. Paired analysis improves the accuracy of interpretation but does not replace separate genetic counseling when a hereditary cancer syndrome is suspected.
Does this test replace treatment prescribed by my doctor?
No. The test helps the physician assess the tumor's molecular features and possible treatment options, but it is not itself a treatment. The result is interpreted together with the diagnosis, disease stage, prior treatment, and the patient's condition. Any continuation or change in current therapy should be agreed with the treating oncologist; necessary care should not be delayed while awaiting the report.
What if no significant alterations are found?
This means that, within the scope of the analysis performed, no findings were identified that support specific molecularly targeted approaches. Such a result does not rule out the effectiveness of standard treatment and does not prove that all potential targets are absent. The physician will assess specimen quality, test scope, and whether additional testing or repeat profiling is appropriate.
Have questions? Book a consultation with a specialist.
Book a visitCancerNeo® — Identify neoantigens for personalized cancer vaccine design
CancerNeo® analyzes the exome of tumor and normal tissue, determines the patient's HLA types and predicts tumor-specific neoantigens. Expression of potential targets is confirmed by RNA sequencing of the same tumor sample. The result provides specialists with the data required to design a personalized cancer vaccine.
Who is it for?
- The development of a personalized cancer vaccine is being considered.
- Tumor-specific mutations and the associated predicted neoantigens need to be identified.
- Peptides potentially presented by HLA class I and HLA class II need to be selected.
- Expression of potential neoantigens needs to be confirmed using tumor RNA.
What the service includes
- Whole-exome sequencing of tumor and normal tissue based on ExomeXtra®.
- Detailed assessment of somatic variants in more than 700 tumor-associated genes and fusions in more than 30 genes.
- Whole-transcriptome sequencing of tumor RNA for gene-expression analysis.
- HLA typing and prediction of neoepitopes for HLA class I and HLA class II.
- Selection of the most relevant neoepitopes and a second medical report listing selected peptides for vaccine-formulation design.
Test characteristics
Basis of the test
Comparative analysis of the tumor and normal-tissue exomes using ExomeXtra®.
Extended assessment
Detailed interpretation of somatic variants in more than 700 tumor-associated genes and fusions in more than 30 genes.
Transcriptome
Whole RNA sequencing of the tumor with rRNA depletion confirms expression of potential targets and detects aberrant gene expression.
HLA and neoepitopes
HLA typing and prediction of peptide epitopes spanning tumor-specific variants; candidates for both HLA class I and class II are considered.
Candidate selection
CeGaT specialists use in silico algorithms to select up to 12 individualized neoantigen epitopes, including short and long peptides.
Two medical reports
The first report contains molecular findings and therapeutically relevant variants; the second lists selected peptides for personalized vaccine-formulation design.
What sample is required?
Normal tissue
1–2 ml of EDTA blood — recommended — or 1–2 µg of genomic DNA.
Tumor material with at least 20% tumor cells
an FFPE block of at least 5 × 5 × 5 mm — preferred — or at least 10 unstained sections measuring 5 × 5 mm.
Sections must be 5 µm thick for staining and 10 µm thick for DNA/RNA extraction.
Isolated tumor DNA above 200 ng or fresh-frozen tumor tissue may also be accepted; other materials require prior agreement.
RNA from the same tumor sample is required to confirm expression; insufficient sample quality or tumor content may prevent completion of the analysis.
Have questions? Book a consultation with a specialist.
Book a visitCancerFusionRx® — RNA-based identification of fusion transcripts
CancerFusionRx® examines structural changes at the RNA level. This approach helps detect both known and previously undescribed gene fusions, including alterations that may be missed by DNA-only analysis.
Who is it for?
- Suspected oncogenic gene fusion
- Identification of targets for targeted therapy
- Supplementing tumor profiling
What the service includes
- Targeted RNA enrichment and fusion detection in more than 200 genes.
- Detection of known and novel fusion partners and recurrent breakpoints.
- Detection of selected therapeutically relevant transcripts, including MET exon 14 skipping.
- A medical report interpreting clinically significant findings.
Test characteristics
Fusion coverage
More than 200 genes are assessed for known and novel fusions.
Breakpoints
More than 130 exon-to-exon enrichments cover recurrent breakpoints.
RNA analysis
Targeted RNA enrichment detects fusion transcripts and selected intragenic events, including MET exon 14 skipping.
Clinical significance
Clinically relevant findings and potential therapeutic options are interpreted in the medical report.
What sample is required?
An FFPE tumor block or at least 10 unstained sections, 10 µm thick.
Tumor-cell content must be at least 20%.
When possible, include a stained H&E slide with the tumor area marked.
Frequently asked questions
How does this test differ from a DNA panel?
CancerFusionRx® analyzes RNA — molecules that reflect gene activity — and is designed to detect fusion transcripts.
A conventional DNA panel addresses a broader or different set of questions and may not cover the relevant rearrangement regions. RNA analysis can therefore complement DNA profiling, particularly when confirming the presence of a functionally expressed fusion is important.
Can the test detect a novel fusion?
Yes. CeGaT states that its targeted RNA analysis of more than 200 genes can detect known and novel fusions. This does not mean that every possible fusion is detectable without limitations: the result depends on test coverage, RNA integrity, and the amount of tumor material. The clinical significance of a novel finding is assessed separately.
Is this a stand-alone test?
The test can be requested separately or as an addition to tumor profiling; CeGaT allows it to be ordered through the CancerPrecision® request form. Confirm in advance whether RNA analysis is included in the selected package, whether sufficient material is available, and whether an additional fee applies. It should not be assumed to be automatically included in every DNA test.
Have questions? Book a consultation with a specialist.
Book a visitCancerDetect® — Highly sensitive detection of actionable variants from liquid biopsy with low tumor content
CancerDetect® analyzes cell-free DNA in the blood and helps detect tumor alterations without obtaining tissue again. Repeat tests make it possible to monitor variant dynamics, response to treatment and the emergence of signs of drug resistance.
Who is it for?
- Monitoring response to therapy
- Longitudinal follow-up
- Cases in which repeat biopsy is difficult
What the service includes
- Detection of driver variants in 31 genes and fusions in 6 genes.
- Highly sensitive analysis using duplex UMI technology.
- Clinical interpretation of detected variants and associated therapeutic approaches.
- For repeat testing, a summary report and a graph showing changes in variant allele frequency.
Test characteristics
Panel coverage
Driver alterations in 31 genes and fusions in 6 genes.
Sequencing depth
Raw coverage of 50,000–100,000×; this is not the number of unique molecules after processing.
Low-frequency variants
Duplex UMI technology with a stated normalized allele-frequency threshold of NAF ≥ 0.25%.
Monitoring
Repeated blood samples allow variant frequencies to be compared over time.
What sample is required?
Three specialized 10 ml cfDNA blood tubes.
In selected cases, ascitic fluid, cerebrospinal fluid or cyst fluid may be accepted after prior agreement.
Standard tubes without a cfDNA stabilizer are not suitable.
Frequently asked questions
Does a negative result rule out a tumor?
Not in all cases. CancerDetect® looks for specific tumor-associated alterations in blood plasma DNA and is useful when tissue is unavailable or serial monitoring is needed. However, the amount of tumor DNA in plasma may be low. A blood test does not replace morphological confirmation of the diagnosis or all tumor tissue tests.
Does a negative result rule out a tumor?
No. A negative result means that the alterations under investigation were not detected in this specimen within the sensitivity of the method. Possible reasons include low shedding of tumor DNA, low disease burden, or the absence of alterations covered by the panel. If suspicion persists, the physician determines the next investigations, including tissue testing.
Can the test be repeated?
Yes. Repeat blood samples can be used to monitor detected variants and their frequencies, including changes associated with response to treatment or resistance. Blood is collected in tubes designed for cfDNA.
The physician determines the testing frequency; results are interpreted together with imaging findings and the clinical picture.
Have questions? Book a consultation with a specialist.
Book a visitCancerMRD® — Tissue-informed monitoring of minimal residual disease for patients with solid tumors
CancerMRD® creates an individual molecular fingerprint of the tumor based on whole-genome analysis of tumor and normal tissue. This fingerprint is then monitored through circulating tumor DNA in the blood.
Who is it for?
- Follow-up after radical treatment
- High risk of recurrence
- Need for personalized monitoring
What the service includes
- Creation of a personalized tumor fingerprint using WGS.
- Comparison of the tumor with the patient's normal DNA.
- Repeat liquid-biopsy monitoring with a detection limit of up to 0.02% tumor DNA.
- Reports with a visual representation of ctDNA dynamics across follow-up time points.
Test characteristics
Individual profile
Whole-genome analysis of tumor and normal samples creates a personalized molecular fingerprint.
Limit of detection
The stated detection limit for tumor DNA in liquid biopsy is 0.02% (200 ppm).
Repeat testing
The established fingerprint is used with new liquid-biopsy samples for follow-up monitoring.
ctDNA dynamics
Follow-up results are shown in the report, including a trend chart.
What sample is required?
For the initial fingerprint
tumor tissue with at least 20% tumor cells and 1–2 ml of EDTA blood.
For each monitoring time point
three specialized 10 ml cfDNA blood tubes.
Frequently asked questions
Can monitoring begin without tumor tissue?
For CancerMRD® in the format described by CeGaT, tissue is required. First, whole-genome analysis of the tumor and normal DNA from EDTA blood is performed to create an individualized molecular "fingerprint." Tumor variants are then monitored in serial liquid biopsies. If no tissue is available, an alternative strategy should be discussed separately; it will not automatically be equivalent to CancerMRD®.
When should repeat samples be collected?
There is no universal schedule for all patients. The physician determines collection time points based on surgery, systemic treatment, tumor type, and the purpose of monitoring. It is important to agree on a baseline and subsequent comparisons in advance. Detection of, or an increase in, ctDNA requires clinical assessment, not an independent decision to stop or change treatment.
Is the test suitable for every tumor?
CeGaT describes CancerMRD® as a method for solid tumors. Its applicability and informativeness depend on the quality of the initial tissue, the ability to establish a molecular fingerprint, and the shedding of ctDNA into the bloodstream. Even a negative monitoring result does not guarantee the complete absence of residual disease; routine follow-up and prescribed imaging should continue.
Have questions? Book a consultation with a specialist.
Book a visitCancerEssential® — Cost-effective analysis for the identification of actionable variants in solid tumor entities
CancerEssential® is a targeted test for situations in which the tumor type is known and the most relevant therapeutic markers for that specific site need to be assessed quickly.
Who is it for?
- Known tumor type with established targets
- Need for rapid targeted analysis
- Clarification of indications for therapy
What the service includes
- Analysis of a selected gene set for the specific tumor.
- Detection of SNVs, small insertions and deletions, selected fusions and MSI.
- Average coverage of approximately 1,000×; stated sensitivity above 99.8% for a high-quality sample.
- A report with clinical interpretation and associated therapeutic options.
Test characteristics
Panel selection
The gene set is selected according to tumor site and may be ordered separately or in combination.
Sequencing depth
Average coverage is approximately 1,000×.
Analytical performance
For a high-quality sample with 20% tumor cells, stated sensitivity is above 99.8% and specificity above 99.9% for a somatic heterozygous variant.
Test types
Point variants and selected fusions; BRCA1/BRCA2 and MSI analysis in the relevant order configuration.
What sample is required?
More than 200 ng of tumor DNA, an FFPE block, or at least 10 unstained sections.
Tumor-cell content must be at least 20%.
For MSI, a matched normal sample, EDTA blood or normal genomic DNA is also required.
Frequently asked questions
How does CancerEssential® differ from CancerPrecision®?
CancerEssential® focuses on the main molecular alterations in specific types of solid tumors. CancerPrecision® covers substantially more genes and biomarkers and includes comparison of the tumor with normal DNA. The choice depends on whether an answer to a focused question or a broader search is needed. More extensive testing does not guarantee that a suitable drug will be found.
Can several panels be combined?
Yes. The CeGaT website states that gene sets can be ordered separately or combined. The composition should be agreed before the specimen is shipped: confirm the genes, the types of alterations detected, and whether fusion and MSI analysis are required. The panel name alone does not mean that all additional tests are included.
Is the test suitable for a rare tumor?
Sometimes, if the panel covers alterations that are relevant to that particular tumor. Broader profiling may be more useful for a rare, diagnostically ambiguous, or heavily pretreated disease. The decision is based on the morphological diagnosis and the clinical question; additional tests are selected individually.
Have questions? Book a consultation with a specialist.
Book a visitCancerIFP — Multiplex immunofluorescence staining for analyzing tumor microenvironment & signaling pathways
Immunohistochemical and immune tests supplement genetic profiling with information about proteins on the surface of and within tumor cells. They may help assess immune targets and determine the next direction of diagnostic evaluation.
Who is it for?
- Selection of immunotherapy
- Clarification of predictive markers
- Supplementing molecular profiling
What the service includes
- Assessment of PD-L1 and HLA/MHC I-II as prescribed.
- A CAR-T protein-target panel as prescribed.
- Selected molecular tests for MGMT and MLH1 methylation, subject to confirmed availability.
- A pathology report; the scope of testing depends on the selected markers.
Test characteristics
PD-L1
Immunohistochemical assessment of PD-L1 expression in tumor tissue.
HLA and MHC
Class I and class II molecule staining to assess expression.
CAR-T panel
Assessment of protein targets that may be relevant to cell therapy.
Promoter methylation
MGMT and, by separate agreement, MLH1. These are molecular tests, not immunohistochemical stains.
What sample is required?
An FFPE tumor block or unstained sections of the submitted tissue.
The number and thickness of sections depend on the selected marker panel and must be confirmed before shipment.
Frequently asked questions
Is this a genetic test?
IHC examines proteins in tissue, not the DNA sequence. For example, it can help assess PD-L1 or HLA expression. However, the promoter methylation analysis listed on the CePreO website is a separate molecular test, while CancerIFP at CeGaT is multiplex immunofluorescence. These methods are not interchangeable.
Is a new biopsy required?
An archived FFPE block or prepared sections are often sufficient. A pathologist assesses the presence of tumor, the amount of tissue, and material quality; requirements depend on the specific stain or panel. A new biopsy may be needed if there is insufficient tissue or if the previous specimen does not address the current diagnostic question. The physician determines whether the procedure is necessary.
Does a single marker determine treatment?
Some validated markers can substantially influence the choice of therapy, but always in the context of a specific diagnosis and indication. The method, positivity cutoff, tumor type, and treatment history all matter. Target expression alone does not establish the effectiveness of every drug directed at that target or the availability of cell therapy.
Have questions? Book a consultation with a specialist.
Book a visitHereditary Tumor Syndromes — Analysis of all known genes associated with hereditary tumor syndromes
Hereditary cancer syndrome testing detects alterations present in all cells of the body that may increase the risk of certain cancers. The result helps the physician develop a follow-up program and, when appropriate, offer family testing.
Who is it for?
- Family history of cancer
- Early age at onset
- Multiple or rare tumors
- Planning follow-up for relatives
What the service includes
- Selection of a gene set based on the clinical presentation and family history.
- Analysis of coding regions and known clinically significant non-coding regions.
- Assessment of SNVs, small insertions/deletions and copy-number changes.
- Variant classification according to ACMG criteria and a medical report.
Test characteristics
Gene selection
The panel is selected according to tumor types and family history.
Analysis region
Coding regions and clinically relevant non-coding regions covered by the selected method.
Variant types
Point variants, small insertions and deletions, and copy-number changes within the validated scope.
Family relevance
The result helps assess inherited predisposition and the need for targeted testing of relatives.
What sample is required?
1–2 ml of EDTA blood or 1–2 µg of genomic DNA.
A completed questionnaire, family history and informed consent.
Frequently asked questions
Does a positive result mean cancer will definitely occur?
No. The detection of a pathogenic genetic variant may indicate an increased predisposition to certain types of cancer, but it does not mean that the disease will inevitably develop. The level of risk depends on the specific gene, the identified change, and individual factors.
Should relatives be tested?
Yes, if a hereditary pathogenic variant is identified, testing of blood relatives may be recommended. Targeted genetic testing makes it possible to determine which family members have inherited this variant and who needs individualized medical monitoring.
Can the test be performed on a person without cancer?
Yes. Genetic testing can be performed on healthy people when there is a family history of cancer or a hereditary variant identified in relatives. This helps assess individual risks and develop a program of preventive monitoring.
Have questions? Book a consultation with a specialist.
Book a visitLynch Syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC) & Polyposis Syndromes — Analysis of genes associated with Lynch syndrome, HNPCC, and polyposis syndromes
The test helps identify hereditary variants associated with Lynch syndrome and different forms of polyposis. An accurate molecular diagnosis affects the follow-up program for the patient and the patient's relatives.
Who is it for?
- Family history of colorectal cancer
- Multiple polyps
- Early age at diagnosis
What the service includes
- Analysis of DNA mismatch-repair genes and polyposis-syndrome genes when indicated.
- Detection of single-nucleotide variants, small insertions/deletions and large rearrangements.
- Additional testing when necessary, including MLPA or MLH1 methylation analysis.
- A report assessing hereditary risk.
Test characteristics
Lynch syndrome
MLH1, MSH2, MSH6, PMS2 and the relevant EPCAM region in the selected configuration.
Polyposis syndromes
Depending on the clinical question, APC, MUTYH and other polyposis genes may be analyzed.
Variant types
Small variants and deletions or duplications; additional methods are selected for the suspected alteration.
Different clinical questions
Germline blood testing and tumor MSI or methylation testing are not interchangeable.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Tumor IHC or MSI results, extracts and family history, when available.
Frequently asked questions
How does hereditary testing differ from tumor MSI analysis?
MSI analysis determines microsatellite instability in tumor tissue, which may indicate a defect in the DNA repair system. Hereditary genetic testing detects pathogenic variants in the relevant genes, such as MLH1, MSH2, MSH6, and PMS2, and helps establish a hereditary cause of the disease.
Is tumor tissue required?
For diagnosing a hereditary predisposition, a sample of EDTA blood or extracted genomic DNA is usually sufficient. Tumor tissue may be required for additional tests, including MSI and immunohistochemistry, if this is needed to clarify the diagnosis.
What changes if a syndrome is confirmed?
Confirmation of a hereditary syndrome makes it possible to determine individual risks of tumor development and to adjust the monitoring program. Genetic counseling and targeted testing of relatives may also be recommended.
Have questions? Book a consultation with a specialist.
Book a visitBRCA1 & BRCA2 Analysis — Analysis of BRCA1 and BRCA2 associated with hereditary breast and ovarian cancer
BRCA1 and BRCA2 are involved in DNA repair. Inherited alterations in these genes may increase the risk of several cancers, while alterations in the tumor itself may be relevant to treatment selection.
Who is it for?
- Breast or ovarian cancer
- Family history of BRCA-associated tumors
- Selection of targeted therapy
What the service includes
- Sequencing of BRCA1 and BRCA2.
- Detection of large deletions and duplications.
- Classification and medical interpretation of variants.
- For tumor testing, assessment of clinical relevance to treatment; for blood testing, assessment of hereditary risk.
Test characteristics
Two genes
Targeted analysis of BRCA1 and BRCA2.
Germline option
Normal DNA is tested for inherited risk; large deletions and duplications are assessed within the agreed scope.
Tumor option
Tumor DNA is analyzed for alterations relevant to therapy.
Matched samples
Combined testing helps distinguish somatic from inherited alterations.
What sample is required?
For germline analysis
EDTA blood or genomic DNA.
For somatic analysis
tumor tissue or tumor DNA with sufficient tumor-cell content.
Frequently asked questions
Which test is needed — blood or tumor?
A blood test makes it possible to identify hereditary changes in the BRCA1 and BRCA2 genes that are present in the body's cells. Tumor tissue analysis is aimed at finding changes directly in the tumor, including acquired mutations. Depending on the clinical situation, both tests may be required.
Does a negative BRCA result rule out hereditary cancer?
No. The absence of pathogenic variants in BRCA1 and BRCA2 does not rule out a hereditary predisposition, since it may be associated with other genes. When appropriate, the physician may recommend an expanded genetic panel.
Should relatives be tested?
If a patient is found to carry a hereditary pathogenic BRCA1 or BRCA2 variant, blood relatives may be offered targeted testing. The result helps determine whether the family variant is carried and whether preventive measures are needed.
Have questions? Book a consultation with a specialist.
Book a visitSingle ExomeXtra® & ExomeFocus® — Full diagnostic power when parental samples are unavailable, or cost-efficient analysis targeted on high-impact variants
Exome diagnostics examines the regions of the genome that contain most known disease-causing variants. ExomeFocus® is a more focused option, while Single ExomeXtra® provides extended analysis of one patient when parental samples are unavailable.
Who is it for?
- Unclear hereditary diagnosis
- Multiple symptoms
- Investigation of the cause of a rare disease
What the service includes
- Exome sequencing and phenotype-guided variant analysis.
- Detection of SNVs, small insertions/deletions and CNVs.
- Assessment of known clinically significant intronic and intergenic variants included in the ExomeXtra® design.
- A medical report; subsequent data re-evaluation is possible for unresolved cases.
Test characteristics
ExomeFocus®
Focused interpretation of prioritized variants based on ExomeXtra® enrichment.
Single ExomeXtra®
Expanded testing of one patient, including coding and selected clinically relevant non-coding regions.
Variant types
Small variants and copy-number changes within the selected test format.
Clinical interpretation
Findings are assessed against the phenotype; secondary findings require separate consent.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Detailed clinical information, previous test results and family history.
Frequently asked questions
How does ExomeFocus® differ from ExomeXtra®?
ExomeFocus® is a more economical option for exome diagnostics with a focus on genetic changes that have a high probability of clinical significance. Single ExomeXtra® provides a broader analysis of genetic variants, including variants of uncertain significance and gene copy number changes.
Will all genetic disorders be found?
No. Even an expanded exome test cannot detect absolutely all genetic changes, because some of them lie outside the regions examined or require special diagnostic methods. A negative result does not rule out a genetic cause of the disease.
Can the data be revisited later?
Yes. CeGaT offers reanalysis of previously obtained exome and genome data in light of new scientific knowledge. For eligible unresolved postnatal cases, reanalysis is available between 12 months and 5 years after the initial report.
Have questions? Book a consultation with a specialist.
Book a visitTrio ExomeXtra® — The highest diagnostic yield – parental data unlock a new analytical dimension
Trio ExomeXtra® analyzes the patient and both biological parents at the same time. The comparison helps determine the origin of a variant, identify new de novo alterations and filter out benign familial features more efficiently.
Who is it for?
- Suspected hereditary disorder in a child
- Need to determine the origin of a variant
- Family planning
What the service includes
- Exome analysis of the patient and both parents.
- Assessment of de novo, recessive, X-linked and compound-heterozygous variants.
- Detection of CNVs and selected forms of uniparental disomy.
- A single medical report explaining the inheritance pattern.
Test characteristics
Three participants
Joint analysis of the patient and both biological parents.
Variant origin
Comparison helps distinguish inherited variants from de novo changes.
Inheritance patterns
Recessive, X-linked and other inheritance patterns are assessed in the context of symptoms.
Expanded analysis
Coding and selected non-coding regions, small variants and CNVs within ExomeXtra®.
What sample is required?
1–2 ml of EDTA blood from the patient and each biological parent, or equivalent genomic DNA.
The patient’s clinical questionnaire and relevant information about the parents.
Frequently asked questions
Why are the parents' samples needed?
Analyzing the genetic data of the child and both parents helps determine which variants are inherited and which arose for the first time (de novo). This approach also makes it possible to identify inheritance patterns and increases diagnostic yield compared with testing a single patient.
Can the analysis be done without one parent?
Yes. If a sample from one of the parents is unavailable, testing of a single patient or a comparative analysis with one relative is possible. However, the informativeness of such testing may be lower than with a full trio analysis.
Are the parents' diseases investigated?
The main purpose of Trio ExomeXtra® is to establish the genetic cause of the disease in the patient being examined. The parents' genetic data are used primarily to analyze inheritance, while any additional findings are assessed within the agreed scope of the study.
Have questions? Book a consultation with a specialist.
Book a visitWhole Genome Diagnostics — A second-tier option for rare, unsolved genetic cases
Whole-genome diagnostics examines coding and non-coding DNA regions and provides better coverage of structural and complex rearrangements. CeGaT considers WGS a second-line test after a negative high-quality exome analysis.
Who is it for?
- Unresolved cases after other tests
- Complex clinical presentation
- Need for maximum genome coverage
What the service includes
- PCR-free whole-genome sequencing with an average diagnostic coverage of 35-40×.
- Analysis of SNVs, indels, CNVs, the mitochondrial genome and structural variants.
- Detection of loss of heterozygosity and selected repeat expansions.
- A medical report with clinical interpretation.
Test characteristics
Genome coverage
Sequencing of coding and non-coding regions across the genome.
Sequencing depth
Average diagnostic coverage of 35–40×.
PCR-free preparation
PCR-free library preparation reduces amplification-related bias.
Variant types
SNVs, indels, CNVs, structural variants and mitochondrial DNA within the validated scope.
What sample is required?
1–2 ml of EDTA blood or more than 2 µg of genomic DNA at a concentration of at least 50 ng/µl.
Previous exome results and up-to-date clinical information.
Frequently asked questions
Is WGS always better than exome?
No. Whole-genome sequencing (WGS) covers broader regions of DNA; however, the expanded exome test ExomeXtra® provides high analytical depth of clinically significant regions. CeGaT also considers WGS as a complementary method for cases in which exome diagnostics could not establish the cause of the disease.
Can WGS be done right away?
Yes, technically whole-genome sequencing can be performed without a prior exome test. However, the choice of method depends on the clinical picture, the suspected disease, and the expected diagnostic yield.
Will all detected variants be analyzed?
No. Despite sequencing of the entire genome, medical interpretation focuses primarily on clinically significant changes related to the patient's symptoms. The scope of analysis and the list of reported results are determined by the chosen diagnostic program.
Have questions? Book a consultation with a specialist.
Book a visitArray CGH — Genome-wide deletion and duplication analysis
Array CGH detects losses and gains of DNA regions that may cause congenital abnormalities, developmental delay and syndromic conditions. The method has a higher resolution than standard karyotyping but does not replace it for every indication.
Who is it for?
- Developmental delay or congenital anomalies
- Suspected chromosomal imbalance
- Supplementing sequencing
What the service includes
- Genome-wide detection of deletions and duplications.
- Approximate diagnostic resolution of 50-100 kb.
- Classification of the clinical significance of detected alterations.
- A medical report and recommendations for additional or family testing when necessary.
Test characteristics
Genome-wide coverage
Detection of DNA losses and gains throughout the genome.
Resolution
Approximate diagnostic resolution of 50–100 kb, depending on array format and genomic region.
Detected changes
Deletions and duplications of chromosomal regions.
Method limitations
Not intended for point variants; balanced rearrangements are generally not detected.
What sample is required?
1–2 ml of EDTA blood or 1–2 µg of genomic DNA.
For prenatal cases, other sample types may be accepted after prior agreement.
Frequently asked questions
How does Array CGH differ from a karyotype?
Array CGH makes it possible to detect small losses and duplications of chromosomal regions that may be invisible with standard karyotyping. At CeGaT, the diagnostic resolution of the method is approximately 50–100 thousand base pairs; however, balanced chromosomal rearrangements are usually not detected.
Does the test show point mutations?
No. Array CGH is intended to detect copy number changes of DNA regions, including microdeletions and microduplications. Other methods are used to detect point mutations, such as sequencing of individual genes, genetic panels, or the exome.
Do the parents need to be tested?
Not always. If a genetic change is detected, testing the parents can help determine whether it arose for the first time or was inherited. This is important for interpreting the clinical significance of the result and assessing the risk of disease recurrence in the family.
Have questions? Book a consultation with a specialist.
Book a visitPanel Diagnostics — Genetic diagnostics enables the confirmation of suspected clinical diagnoses, prediction of the course of the disease, and initiation of therapeutic measures
Panel diagnostics examines a group of genes associated with a particular disorder or set of symptoms. This makes it possible to focus on the most likely causes and obtain a clinically oriented report.
Who is it for?
- Symptoms of a specific disease group
- Clarification of the clinical diagnosis
- Family history of a hereditary disease
What the service includes
- Selection of a standard or customized panel based on the phenotype.
- Analysis of SNVs, small insertions/deletions and CNVs.
- Known clinically significant intronic variants and relevant mtDNA targets.
- A medical report from a genetics specialist.
Test characteristics
Clinical area
Panels are available for neurology, cardiology, vision, hearing, kidney disorders and other specialties.
Gene coverage
A standard or customized gene set is selected according to symptoms and the suspected diagnosis.
Variant types
Point variants, small insertions or deletions and CNVs within the selected analysis.
Additional regions
Clinically relevant non-coding and mitochondrial targets are included when present in the chosen panel.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Clinical summary, previous test results and family history.
Frequently asked questions
How do I choose the right panel?
The choice of panel depends on the patient's symptoms, the suspected diagnosis, and the family history. CeGaT offers specialized panels for various groups of hereditary diseases, and when the clinical picture is unclear, a broader genetic test may be recommended.
What should be done if the test is negative?
A negative result does not always rule out a hereditary disease, since the cause may be changes in genes not included in the chosen panel. Depending on the clinical situation, the physician may recommend an expanded test, such as ExomeXtra®, or additional diagnostic methods.
Can an individual gene be added?
The possibility of changing the composition of a genetic panel must be agreed with the CeGaT laboratory. If the required gene is not part of the standard panel, specialists may consider another diagnostic method or an individualized testing strategy.
Have questions? Book a consultation with a specialist.
Book a visitSingle Gene and Segregation Analysis — For the focused analysis of single genes or familial variants
When the suspected gene or familial variant is already known, targeted analysis answers the specific question faster and more precisely. The method is selected according to the expected alteration: sequencing, MLPA, quantitative PCR or fragment-length analysis.
Who is it for?
- Known mutation in the family
- Confirmation of a specific variant
- Repeat-associated disorders
What the service includes
- Sequencing of the selected gene or testing for a specific familial variant.
- MLPA/qPCR for deletions and duplications when a validated assay is available.
- Fragment-length analysis for selected repeat-expansion disorders.
- A report with classification of the result.
Test characteristics
One gene or variant
Sequencing of a selected gene or targeted confirmation of a known familial variant.
MLPA and qPCR
Targeted deletion and duplication analysis when a validated assay is available.
Repeat expansions
Specialized repeat-expansion analysis for a specific disorder.
Family testing
Testing relatives for a detected variant helps clarify inheritance.
What sample is required?
1–2 ml of EDTA blood or 1–2 µg of genomic DNA.
A buccal swab, saliva or DBS card may be accepted for selected tests after agreement.
Frequently asked questions
Why can't ordinary sequencing be used for any mutation?
Different genetic changes require different laboratory methods. For example, MLPA may be used to detect large deletions and duplications, while special methods for analyzing repeat sequences are used to determine a pathological increase in the number of DNA repeats.
What is segregation analysis?
Segregation analysis is the study of a specific genetic variant in the patient's relatives. It helps establish the inheritance pattern of the change and obtain additional information about its association with the disease.
Is the service suitable if the gene is unknown?
Testing a single gene is most appropriate when the suspected gene or a specific family variant is known. If the genetic cause of the disease is unknown, the physician may recommend a gene panel or a broader exome test.
Have questions? Book a consultation with a specialist.
Book a visitDisease Prevention Panel — Understand genetic risk factors. Plan individual health care.
The prevention panel helps identify genetic risk factors before symptoms develop. The result does not predict the future with complete certainty; it identifies areas to discuss with a physician and consider in a personalized follow-up plan.
Who is it for?
- Interest in personalized prevention
- Family history of disease
- Desire to clarify hereditary risks
What the service includes
- More than 170 risk genes across 12 combinable modules.
- Areas include cancer, cardiovascular risks, thrombosis, metabolic disorders, kidney diseases and others.
- Option to add a pharmacogenetic module and a set of clinically significant ACMG genes.
- A report with results suitable for discussing personalized follow-up.
Test characteristics
Panel coverage
More than 170 risk genes across the complete set of modules.
Modular selection
Twelve modules may be selected separately or combined.
Prevention areas
Inherited risks for cancer, cardiovascular, metabolic and other disorders according to the selected modules.
Practical result
A basis for discussing personalized surveillance; genetic testing does not replace routine preventive screening.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Informed consent and pre-test genetic counseling according to predictive-testing rules.
Frequently asked questions
Does the result show what I will definitely develop?
No. Genetic testing identifies hereditary factors that may increase the probability of developing certain diseases. The actual risk depends not only on genetics but also on lifestyle, the environment, and other individual factors.
Can a genetic test replace routine screening?
No. Genetic testing helps determine individual predisposition and, if necessary, adjust the prevention program. However, it does not replace regular medical check-ups and recommended screening examinations.
What should be done with the result?
It is recommended that the result be discussed with a geneticist or a relevant specialist. Based on the identified genetic risk factors, recommendations can be developed for prevention, early detection of diseases, and lifestyle changes.
Have questions? Book a consultation with a specialist.
Book a visitPredictive Analysis for Parkinson's Disease & Dementia — Create a genetic risk profile and obtain certainty. Identify genetic factors and understand risks.
Predictive testing is performed in a person without an established diagnosis to assess hereditary risk factors for a disease that may develop in the future. This testing requires an informed decision and professional explanation of the possible results.
Who is it for?
- Family history of neurodegenerative diseases
- Informed request for risk assessment
What the service includes
- Selection of a separate gene set for dementia or Parkinson's disease.
- Analysis of variants within the selected test.
- Medical interpretation of risk taking family history into account.
- Discussion of the result with a medical geneticist.
Test characteristics
Dementia
A separate genetic test for predisposition to inherited forms of dementia.
Parkinson’s disease
A separate gene set associated with inherited Parkinson’s disease risk.
Before symptoms
Predictive testing is performed after discussion of its implications and informed consent.
Risk assessment
The result cannot always predict whether disease will occur, its age of onset or severity.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Informed consent and genetic counseling before testing.
Frequently asked questions
Can the test be taken without symptoms?
Yes. Predictive genetic diagnostics makes it possible to examine hereditary risk factors even before clinical manifestations of the disease appear. Genetic counseling is recommended before testing to assess the appropriateness of the analysis and the possible consequences of receiving the result.
Does a negative result guarantee the absence of disease?
No. The absence of identified genetic risk factors does not rule out the development of Parkinson's disease or dementia. These diseases may be associated with other genetic changes as well as with non-genetic factors.
Does a positive result indicate an exact date of onset?
No. Detection of a genetic variant may indicate an increased predisposition, but it does not reliably determine the age of disease onset. The effect of a particular variant on the risk and course of the disease can vary considerably.
Have questions? Book a consultation with a specialist.
Book a visitFamily Planning Panel — Risk assessment of potential hereditary diseases in healthy couples wishing to have children
A healthy person may carry a hereditary variant without having symptoms. The panel compares the data of both partners and identifies combinations that may create a risk of disease in a future child.
Who is it for?
- Preparing for pregnancy
- Family history of hereditary disorders
- Consanguineous marriage
What the service includes
- Joint analysis of 1,944 genes associated with severe childhood-onset disorders.
- Assessment of autosomal-recessive, X-linked and selected other inheritance mechanisms.
- FMR1 and SMN1 tests included according to panel rules.
- A single report describing combinations of variants that create a risk for the couple's child.
Test characteristics
Panel coverage
1,944 genes associated with severe early-onset childhood disorders.
Couple analysis
Results from both partners are compared to assess risk for their future child.
Inheritance patterns
Recessive, X-linked and other panel-defined inheritance mechanisms are considered.
Special methods
FMR1 repeat analysis in women and SMN1 MLPA are included according to laboratory rules.
What sample is required?
1–2 ml of EDTA blood from each partner or 1–2 µg of genomic DNA from each partner.
Questionnaire, family history and informed consent.
Frequently asked questions
If both partners are healthy, why is testing needed?
Healthy people can be carriers of genetic variants capable of causing hereditary diseases in their children. If both parents are carriers of pathogenic variants in the same gene associated with an autosomal recessive disease, the risk of having an affected child is 25% with each pregnancy.
Does a positive result mean the child will definitely be affected?
No. The test result makes it possible to estimate the probability of having a child with a certain hereditary disease rather than to predict its development with one-hundred-percent accuracy. The risk depends on the genetic variants of both parents and the mode of inheritance of the disease.
Do both partners need to be tested?
Yes, for a complete assessment of the combined genetic risk CeGaT analyzes the data of both prospective parents. This makes it possible to identify combinations of hereditary variants that may pose a risk to the future child.
Have questions? Book a consultation with a specialist.
Book a visitFertility — Analysis of all known genes associated with fertility
The fertility panel examines genes whose alterations may disrupt germ-cell maturation, hormonal regulation, spermatogenesis, implantation or early embryo development.
Who is it for?
- Unexplained infertility
- Impaired spermatogenesis
- Premature ovarian insufficiency
What the service includes
- A panel of 307 genes associated with fertility and recurrent pregnancy loss.
- Separate gene sets for male and female reproductive disorders.
- Detection of SNVs, small insertions/deletions and CNVs; FMR1 analysis for selected female indications.
- A medical report describing the possible clinical implications of the result.
Test characteristics
Panel coverage
307 genes associated with fertility disorders and recurrent pregnancy loss; the exact set depends on the indication.
Female and male fertility
The gene set is selected according to the clinical situation.
Small variants and CNVs
Analysis of point variants, small insertions or deletions and copy-number changes.
Additional methods
FMR1 analysis for relevant female indications and AZF deletion analysis for relevant male indications.
What sample is required?
1–2 ml of EDTA blood or 1–2 µg of genomic DNA.
A buccal swab, saliva or DBS card may be possible after agreement.
Clinical information for both partners when relevant to the referral question.
Frequently asked questions
Will the test find any cause of infertility?
No. Genetic diagnostics is aimed at identifying hereditary changes that may affect reproductive function. However, infertility can be associated with hormonal, anatomical, infectious, and other non-genetic causes.
Do both partners need to be examined?
The need to examine both partners depends on the clinical situation and the results of preliminary diagnostics. CeGaT offers genetic panels to investigate the causes of both male and female infertility.
Can the result change treatment?
Yes. In some cases, identifying a genetic cause of infertility makes it possible to adjust the treatment approach, for example to choose hormonal therapy or a suitable assisted reproductive technology method. The decision is made by the treating specialist taking into account all examination results.
Have questions? Book a consultation with a specialist.
Book a visitPharmacogenetics — PGX Analysis
Genetic characteristics may alter the rate at which medicines are processed: a standard dose may be insufficient for one person but produce an increased concentration and adverse effects in another. PGx helps the physician take these differences into account.
Who is it for?
- Selection and adjustment of drug therapy
- Adverse drug reactions
- Preventive interest in treatment safety
What the service includes
- Analysis of known pharmacogenetic variants in 21 genes.
- Assessment of genetic characteristics affecting the metabolism of selected medicines.
- A pharmacogenetic report for the treating physician.
- The choice of a standalone or add-on format is agreed when the test is ordered.
Test characteristics
PGx coverage
Known pharmacogenetic variants in 21 genes.
Drug metabolism
Enzyme and transporter genes that influence the effects of selected medicines.
Medical report
Information for discussing medicine and dose selection with the treating physician.
No self-adjustment
The result is not an instruction to stop, replace or change the dose of a medicine independently.
What sample is required?
1–2 ml of EDTA blood or genomic DNA.
Provide a current medication list and information about previous adverse reactions.
Frequently asked questions
Can I change the dose myself based on the result?
No. Pharmacogenetic testing shows how certain hereditary variants may affect the metabolism, efficacy, and tolerability of medicines. Only the treating physician should change the dosage or replace a drug.
Does the test check all medicines?
No. The CeGaT pharmacogenetic test examines variants in 21 genes associated with the metabolism and action of certain medicines. The results can be useful for individualized selection of therapy, but they do not make it possible to assess the body's response to absolutely all medicines.
Does the test need to be repeated?
Usually not. The hereditary genetic variants determined by pharmacogenetic testing generally remain unchanged throughout life. However, recommendations on the use of medicines may be updated as new scientific data emerge.
Have questions? Book a consultation with a specialist.
Book a visitHLA Typing — Identify individual HLA alleles with next-generation sequencing
HLA typing determines variants in genes involved in presenting antigens to the immune system. The loci tested and the required resolution depend on the clinical question and are agreed before testing.
Who is it for?
- Preparation for transplantation
- Assessment of selected drug-related risks
- Supplementing other tests
What the service includes
- Determination of HLA class I: HLA-A, HLA-B and HLA-C.
- Determination of HLA class II: HLA-DP, HLA-DQ and HLA-DR.
- NGS sequencing and specialized bioinformatic analysis.
- A structured report with typing results.
Test characteristics
HLA class I
HLA-A, HLA-B and HLA-C typing in the selected format.
HLA class II
HLA-DP, HLA-DQ and HLA-DR typing in the selected format.
Method
Sequencing and specialized HLA bioinformatic analysis.
Fit for purpose
Loci, typing resolution and clinical use are agreed before testing.
What sample is required?
EDTA blood or genomic DNA; sample type, volume and quality requirements are agreed for the selected HLA-typing format.
Frequently asked questions
Is HLA typing a compatibility test?
HLA typing determines a person's individual variants of the genes of the major histocompatibility complex. Its results are used, among other things, to assess donor–recipient compatibility in transplantation; however, the final decision requires additional tests.
Can a single result be used for different purposes?
In some cases yes, because a person's genetic HLA profile does not change during their lifetime. However, different clinical tasks may require testing of additional HLA loci or a higher resolution of typing.
Does HLA typing determine overall immunity?
No. The test characterizes specific HLA alleles involved in the recognition and presentation of antigens to the immune system. It does not make it possible to comprehensively assess the state of immunity or to determine the presence of an immunodeficiency.
Have questions? Book a consultation with a specialist.
Book a visitOnline Genetic Counseling — Genetic diagnostics requires experience in both selecting the appropriate test and interpreting the results.
A medical geneticist helps formulate the clinical question, select an appropriate test and explain the possible implications of the result for the patient and family. A consultation is useful both before testing and after a report has been received.
Who is it for?
- Uncertainty about which test to choose
- Need for result interpretation
- Family history of hereditary disorders
What the consultation includes
- Collection of personal and family medical history.
- Assessment of indications and selection of the optimal diagnostic strategy.
- Explanation of the test's capabilities, limitations and possible results.
- Review of the report and recommendations for next steps.
Consultation scope
Test selection
Discussion of symptoms and the clinical question, followed by selection of a diagnostic strategy.
Family history
Review of relatives’ disorders and possible inherited risks.
Result interpretation
Explanation of findings, test limitations and their relevance to the patient and family.
Next steps
Recommendations for further diagnostics and referral to relevant specialists.
What to prepare for the consultation
Before the consultation, provide medical reports, previous test results and information about relatives’ conditions.
No biological sample is required for the consultation; collection is discussed only after a test has been selected.
Frequently asked questions
Can I have a consultation without a completed test?
Yes. A consultation with a geneticist can be held before a laboratory test is performed. The specialist reviews the medical and family history, assesses the indications, and helps choose the most suitable genetic test.
Can the consultant make a final diagnosis online?
A geneticist can assess clinical data, the results of previously performed tests, and the likelihood of a hereditary disease. However, establishing a final diagnosis depends on the completeness of the medical information and, if necessary, requires additional examinations.
Can relatives take part?
The participation of relatives can be useful for clarifying the family history and assessing hereditary risks. The possibility of their presence at the online consultation should be agreed with the physician in advance, taking into account the patient's consent and the confidentiality of medical data.
Have questions? Book a consultation with a specialist.
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