Genekor Medical SA and Medical Diagnostic Laboratories “Kandilarov” joined forces

We are excited to announce this new strategic partnership that combines the expertise and resources of both companies to deliver innovative healthcare solutions and improve cancer patient care.

The collaboration between Genekor Medical SA and Kandilarov Medical Diagnostic Laboratories aims to provide access to quality healthcare services to all citizens. Combining their mutual strengths in research, development and distribution, the two companies promise to drive positive change and make a lasting impact on the health and well-being of cancer patients in Bulgaria.

“We are excited to embark on this journey with Kandilarov Medical Diagnostic Laboratory and build a new strategic partnership that combines the expertise and resources of both companies to deliver innovative healthcare solutions and improve cancer patient care.”

Nikos Tsoulos, CEO Genekor Medical SA.

The collaboration will focus on several key areas in oncology, including:

Molecular response to treatment
Determination of hereditary syndromes
Early detection of cancer
Pharmacogenomics
Scientific support and genetic counselling

Research

gene testing for cancer

֍ Cancer Molecular Tests

HerediGENE®
Description	HerediGENE® is a diagnostic multigene test for hereditary cancer that analyzes 52 genes, 21 of which are associated with homologous recombination (including BRCA 1/2). These genes are involved in the increased risk of breast, ovarian, prostate, colorectal and other hereditary cancers. Advanced next-generation sequencing (NGS) technology is used. The test can be used as a tool for prevention, providing correct information to the physician about personal treatment of the patient or to identify family members predisposed to cancer.
Types of cancer	Breast, colorectal, prostate, pancreas, ovarian, stomach, melanoma, thyroid, kidney, endometrium
Cancer syndromes	Hereditary breast and ovarian cancer syndrome, Lynch syndrome, Cowden syndrome, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis, Von-Hippel Lindau syndrome, multiple endocrine neoplasia, others.
Possible results	A negative result indicates that no clinically relevant mutation has been identified. A positive result indicates that a pathogenic mutation has been identified and medical treatment based on international recommendations is available for carriers of this mutation. A variant of unknown significance (VUS) indicates that there are identified findings that have not been clarified based on the international data literature to date. Medical management is based on personal and family history.
Who is the HerediGENE® test suitable for?	All breast cancer patients Individuals with any type of cancer at an early age Individuals with bilateral breast and/or ovarian cancer Individuals with the same type of cancer occurring in close relatives and the presence of cancer in several generations of the same family Individuals with rare tumors of any age Individuals with first-degree relatives who had cancer at an early age or have a known gene mutation Individuals who develop hundreds or thousands of polyps Men with breast cancer
Additional information	The results are useful for the whole family, as it is enough for a person to inherit a mutation from one parent to have an increased risk of developing cancer. Any individual whose parent carries the mutation has a 50% chance of inheriting the mutation. More distant relatives are also at risk of carrying the mutation. Note that inherited susceptibility syndromes can be associated with many different types of cancer. Therefore, a mutation found in a breast or ovarian cancer sample may be associated with an increased risk of pancreatic or prostate cancer.
Time limit for obtaining the result	20 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes) or saliva in a special kit supplied by our company.

Research	Price
HerediGENE®	1400.00 лB.

Com.pl.i.t DX® Lung
Description	Molecular testing for non-small cell lung cancer (NSCLC) The ComPlit DX® multigene test provides important information about tumor biology and can lead to the identification of carcinogenic mutations known as “driver mutations”. The result helps the treating physician and patient arrive at the most effective personalized treatment for non-small cell lung cancer (NSCLC). It can also be used for other types of solid tumors, including those with an unknown primary tumor.
Reasons to take the test	Determines the molecular profile of the tumor (gene mutations) and the interactions between genes in cases of multiple mutations. Identifies drugs that target either the mutant gene(s) or the pathways in which they are involved. Identifies mutations associated with resistance to targeted therapies. Recommends treatments that are approved for the specific mutation but also appropriate for a different tumor type and/or identifies treatments in clinical trials.
Immunotherapeutic biomarkers	PD-L1
IHC biomarkers	HER2
Time limit for obtaining the result	10-15 working days
What type of sample is needed for the test?	Tumour block

7 Gene rearrangements
ALK	MET
NTRK1	NTRK2
NTRK3	RET
ROS1

Panel with 27 Gene Mutations
AKT1	ALK	BRAF
CDKN2A	CTNNB1	DDR2
EGFR	ERBB2	FBXW7
FGFR1	FGFR2	FGFR3
HRAS	KEAP	KRAS
MAP2K1	MET	NOTCH1
NRAS	PIK3CA	POLE
PTEN	RET	SMAD4
PTEN	SMAD4	SMARCA4
STK11	TP53

Research	Price
Com.pl.i.t DX® Lung	1000.00 лB.

Com.pl.i.t DX® Colon – Choosing the right treatment plan for patients with colorectal cancer
Description	The Com.pl.it DX® Colon multigene test includes gene mutations associated with colorectal cancer. Analysis of many of these are essential to design a personalized treatment plan for patients.
How does the Com.Pl.it DX® test help in choosing the right treatment?	Determines the molecular profile of the tumor (gene mutations) and the interactions between genes in cases of multiple mutations. Identifies approved drugs that target either the mutated genes or the pathways in which they are involved Identifies mutations associated with resistance to targeted therapies Recommends therapies beyond those approved or treatments in clinical trials based on the molecular profile of the tumor. This may be particularly important for patients in whom standard treatment has been unsuccessful.
Immunotherapeutic biomarkers	MSI
Immunohistochemical biomarkers (IHC)	HER2
Time limit for obtaining the result	10 working days
What type of sample is needed for the test?	Tumour block

Panel with 27 Gene Mutations
AKT1	ALK	BRAF
CDKN2A	CTNNB1	DDR2
EGFR	ERBB2	FBXW7
FGFR1	FGFR2	FGFR3
HRAS	KEAP	KRAS
MAP2K1	MET	NOTCH1
NRAS	PIK3CA	POLE
PTEN	RET	SMAD4
SMARCA4	STK11	TP53
TP53

7 Gene rearrangements
ALK	MET
ROS1	RET
NTRK1	NTRK2
NTRK3

Research	Price
Com.pl.i.t DX® Colon	1200.00 лB.

Com.Pl.it DX® Liquid – Multigene test with liquid biopsy to select the appropriate treatment plan for each solid tumor
Description	The test is designed for any type of solid tumor, presenting gene profile information using the non-invasive liquid biopsy method. It is performed prior to treatment selection and for follow-up during treatment. It also helps to identify secondary mutations that would alter the treatment plan.
Who is the Com.Pl.it DX® Liquid test suitable for?	Patients with hard-to-reach tumors and patients with little or no appropriate tissue. Patients with multiple metastases. Patients on or after treatment
How does the liquid biopsy test help when choosing a treatment plan or after completing it?	Determines the molecular profile of the tumour (gene mutations) and the interactions between genes in cases of multiple mutations Identifies approved drugs that target either the mutated genes or the pathways in which they are involved Identifies mutations associated with resistance to targeted therapies Recommends therapies outside of approved or treatments in clinical trials. This may be particularly important for patients for whom standard treatment has failed.
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Blood sample in a special STRECK tube provided by the company. (Cell-Free DNA BCT® (10ml).

Panel with 12 Gene Mutations
ALK	BRAF	EGFR	ERBB2
KRAS	MAP2K1	MET	NRAS
PIK3CA	RET	ROS1	TP53

3 Gene rearrangements
ALK	ROS1	RET

Research	Price
Com.Pl.it DX® Liquid	1500.00 лB.

Com.Pl.it DX® Liquid Breast – Multigene liquid biopsy test for postmenopausal women with recurrent or metastatic ER+, HER2- breast cancer
Description	The test is a powerful tool for assessing breast cancer status and can be used to decide whether or not a patient should undergo specific targeted treatment. Com.Pl.it DX® Liquid Breast®: Determine the molecular profile of the tumor such as gene mutations and copy number variations for inoperable tumors. Denotes an approved drug targeting the mutant gene or pathway in which the genes are involved. Identifies mutations associated with resistance to the targeted treatment. Recommends therapies beyond those approved and/or treatments included in clinical trials. The Com.pl.i.t DX® Breast Fluid test is suitable for: Patients with inoperable tumors and patients with limited or insufficient tissue biopsy material. Patients with multiple metastases. Patients on treatment or after completion of treatment. In this case, it provides insight into the possible emergence of new target mutations or mutations resistant to the therapy used
Highly recommended for:	Patients with difficult to access tumours and limited or insufficient tissue biopsy material Patients with multiple metastases Patients on treatment or after completion of treatment. In this case, it provides insight into the possible emergence of new target mutations or mutations resistant to the therapy used

Com.Pl.it DX® Liquid Breast – Multigene liquid biopsy test for postmenopausal women with recurrent or metastatic ER+, HER2- breast cancer

Description

The test is a powerful tool for assessing breast cancer status and can be used to decide whether or not a patient should undergo specific targeted treatment.

Com.Pl.it DX® Liquid Breast®:

Determine the molecular profile of the tumor such as gene mutations and copy number variations for inoperable tumors.
Denotes an approved drug targeting the mutant gene or pathway in which the genes are involved.
Identifies mutations associated with resistance to the targeted treatment.
Recommends therapies beyond those approved and/or treatments included in clinical trials.

The Com.pl.i.t DX® Breast Fluid test is suitable for:

Patients with inoperable tumors and patients with limited or insufficient tissue biopsy material.
Patients with multiple metastases.
Patients on treatment or after completion of treatment. In this case, it provides insight into the possible emergence of new target mutations or mutations resistant to the therapy used

Highly recommended for:

Patients with difficult to access tumours and limited or insufficient tissue biopsy material
Patients with multiple metastases
Patients on treatment or after completion of treatment. In this case, it provides insight into the possible emergence of new target mutations or mutations resistant to the therapy used

10 Gene changes (approx. 152 hotspots)
AKT1	EGFR	ERBB2	ERBB3	ESR1
FBXW7	KRAS	PIK3CA	SF2B1	TPS3

Changes in the number of copies
CCND1	ERBB2	FGFR1

Full length genes
TP53

In the gene panel above, we find mutations in the ESR1 gene (48% frequency as a mechanism of resistance to hormone therapy based on the Emerald study).

We are also finding mutations in the PIK3CA gene with the approved treatment Alpelisib, as well as other genes for which there are experimental or off-label treatments.

BIOMARKERS ASSOCIATED WITH FDA-APPROVED THERAPIES

Time limit for obtaining the result	10 working days
What type of sample is needed for the test?	Blood sample in a special STRECK tube provided by Genekor (Cell-Free DNA BCT®(10ml) and Cell-Free RNA BCT®(10ml)).

Research	Price
Com.Pl.it DX® Liquid Breast	1500.00 лB.

Prime DX® – For an effective personalized cancer treatment plan
Description	The new prime DX® molecular tumor profiling technology is compatible with both FFPE and PLASMA! It is one of the most detailed, sensitive, and specific tests for tumor biology configuration, allowing physicians to plan effective cancer treatments for the patient, including targeted therapies, immunotherapy, chemotherapy, PARP inhibitors, and compatibility with clinical trial participation. It provides answers regarding the toxicity of chemotherapy drugs, such as 5-FU, irinotecan, and others.
The test can be used in the following cases	Aggressive tumours without standard cancer treatment (e.g. pancreatic cancer) When the initial cancer treatment plan is complete but more treatment options need to be considered Tumors of unknown primary origin Secondary treatment Rare tumors Tumors without an established “gold standard” for treatment Tumours with several available treatment options, where the doctor has to decide which will be most effective for a particular patient (such as lung cancer). In addition, For a clear indication of the patient’s immune response, allowing the physician to know if an immunotherapy plan would be beneficial and/or to create the most effective immunotherapy plan.
Why choose prime DX®	Choosing the most appropriate cancer treatment: proven to provide more useful information than any other test. By analyzing 1,021 unique cancer genes and the immunotherapy biomarkers MSI, PD-L1, LOH (for ovarian cancer), HLA and TMV, the prime DX® test provides access to the largest amount of useful information to date, providing the clearest indication to the physician of which targeted therapies will and will not benefit the patient, including immunotherapy, chemotherapy and PARP inhibitors. Continuous support for the doctor and the patient by an experienced team. The procedure of the prime DX® test or any other test at Genekor Medical S.A. does not end with the notification of the results. Experienced customer service and scientific consulting teams work with the physician and patient throughout the entire process. Highly accurate, sensitive and reliable technology: based on advanced hybrid detector enrichment technology of targeted genomic regions. In addition, it uses molecular trackers (UMI) for increased sensitivity in detecting somatic variants.
Results	The prime DX® assay results include a detailed explanation of all findings, including the following information: Molecular profiling of tumor tissue with details of specific gene mutations and interactive access to gene-specific information Recommended approved therapies and anti-cancer therapies that may be of great benefit to the specific patient with interactive access to clinical trials Proposed experimental anticancer therapies with interactive access to clinical trials Treatment with associated resistance that will not benefit the individual patient Medication proposals with documented indications
You can add the following immunohistochemical markers	PD-L1 HER2 overexpression FRα for ovarian cancer Claudin 18.2 for adenocarcinoma of the stomach and gastroesophageal junction
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Tumour block

Prime DX is an NGS panel of 1021 genes, of which 36 are HR genes.

The test also includes:

Immunotherapeutic biomarkers	PARP inhibitors biomarkers	IHC Biomarkers
TMB	LOH	PD-L1
MSI		HER2
HLA		FRα
		CLDN18.2

Agnostic markers
Targeted therapies	Immunotherapies
NTRK1,2,3	TMB
RET Fusions	MSI
BRAFV600E Mutation
HER2 Amplification

Research	Price
Prime DX®	2500.00 лB.

prime DX® Liquid – Analysis of molecular tumor profile and genetic predisposition by liquid biopsy.
Description	The new prime DX® Liquid assay consists of a panel of 1021 genes, analyzing the immunotherapeutic biomarkers TMB, MSI, HLA, allowing the treating physician to plan effective treatment, including immunotherapy, chemotherapy, PARP inhibitors and compatibility for participation in clinical trials. In addition, prime DX® Liquid analyzes genes associated with genetic susceptibility to cancer, providing the physician with information about the likelihood of hereditary cancer.
Recommended for the following cases	When there is insufficient tissue or a recent biopsy If the tissue quality is poor (e.g. too much bone in the sample) In metastatic and multifocal disease After treatment to check patient response If the patient relapses and needs molecular profiling without biopsy
Advantages of liquid biopsy	Non-invasive method (blood sampling) Ability for sequential analyses – disease progress monitoring Low failure rate (~3%) due to material unsuitability Better assessment of tumour genetic heterogeneity
Results	The prime DX® Liquid assay results include a detailed explanation of all findings, including the following information: Molecular profiling of tumor tissue with details of specific gene mutations and interactive access to gene-specific information Recommended approved therapies and anti-cancer therapies that may be of great benefit to the specific patient with interactive access to clinical trials Proposed experimental anticancer therapies with interactive access to clinical trials Treatment with associated resistance that will not benefit the individual patient Medication proposals with documented indications
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Blood sample in a special tube provided by the company (Cell-Free DNA BCT®(10ml))

Research	Price
prime DX® Liquid	2500.00 лB.

prime DX® Combo – Molecular tumor profiling by FFPE and liquid biopsy
Description	Revolutionary precision medicine: dual testing for comprehensive molecular profiling. Prime DX® Combo enables simultaneous testing of FFPE (formalin-fixed paraffin embedded) and liquid biopsy samples.
Why should I choose both tissue and liquid biopsy testing?	Faster turnaround time, allowing patients to receive their preferred treatment in a timely manner Increased diagnostic accuracy through increased sensitivity of mutation detection, therefore reducing false negatives
Prime DX® Combo Specifications	Based on advanced technology using hybridization probes of the targeted genomic regions. Uses molecular markers (UMI) for increased sensitivity in detecting somatic variants. The technology has demonstrated high reproducibility, sensitivity and specificity and has been adopted by leading cancer institutions worldwide. The test uses the Oncology Multi-Gene Variant Assay (GenePlus)-a qualitative in vitro diagnostic test (CE-IVD), detecting variants in 1021 tumor-associated genes and gene rearrangements/mergers in 38 genes. Analyzes biomarkers of immunotherapy response, including MSI (microsatellite instability), TMB (tumor mutational burden) and HLA zygosity detection, and biomarkers of chemotherapy response. The MGI-DNBSEQ-G400 is a CE-IVD platform that enables simultaneous processing of multiple samples with high sensitivity and specificity, delivering faster and more reliable results at a lower cost. The following predictive immunohistochemical markers performed in our pathology laboratory can be added to PrimeDX®: PD-L1 HER2 overexpression FRα for ovarian cancer Claudin 18.2 for adenocarcinoma of the stomach and gastroesophageal junction
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Paraffin block and blood sample in a special tube provided by the company (Cell-Free DNA BCT® (10ml)).

Research	Price
prime DX® Combo	4500.00 лB.

MyWES®
Description	The test is based on Whole Exome Sequencing (WES) and performs a complete screening of more than 20,000 genes to detect and diagnose genetic diseases. Most of the genetic variants responsible for disease are found in the coding exons of the human genome. They make up only 1% – 2% of the genome, but in total 85% of all known mutations are thought to be located in these regions. For this reason, it makes sense to perform targeted WES analysis. MyWES® can be done during pregnancy, childhood or adulthood. Technical information WES is performed using a special technology called next-generation sequencing (NGS). A patient’s blood DNA sample is compared to a reference sample (representing the ‘normal’ human DNA sequence) in an attempt to find differences between the two. If there are differences, they are examined by the specialist laboratory geneticists at Genekor and your doctor.
When is the diagnostic test recommended?	Patients with no pathogenic variants detected after sequencing of genes/genic regions included in narrower sequencing panels A patient presents with a genetic disease that demonstrates a high degree of genetic heterogeneity, making WES or WGS analysis of multiple genes simultaneously a more practical approach The patient has a possible genetic disorder, but available specific genetic tests have not yielded a diagnosis for this phenotype An infant with a potential genetic disorder in which specific genetic tests, including targeted phenotype sequencing analyses, have failed to yield a diagnosis
When is the prophylaxis test recommended?	Can be used for prenatal screening before pregnancy. Used strategically to focus on genetic variants known to be associated with diseases with a dominant or recessive mode of inheritance. Given the long time required and the complexity of interpretation, it is recommended that carrier testing be performed before conception. Asymptomatic individuals interested in the MyWES® test for diagnostic health purposes should receive pre- and post-test genetic counseling from a medical geneticist and/or genetic counselor.
Time limit for obtaining the result	25 working days
Sample required	EDTA blood sample (2 tubes)

Research	Price
MyWES®	1800.00 лB.

Clinkor®
Description	The Clinkor® test is based on the analysis of more than 5,000 clinically important genes associated with inherited diseases. It can have great diagnostic value in cases of rare diseases or in cases of indeterminate phenotype.
When is it recommended for diagnosis?	Patients with no pathogenic variants detected after sequencing of genes/genic regions included in narrower sequencing panels Patient shows definite genetic disease, demonstrating a high degree of genetic heterogeneity, making multigene analysis a more practical approach The patient has a possible genetic disorder, but available specific tests have not yielded a diagnosis for this phenotype First-degree relatives of the patient diagnosed by clinical exome analysis
Technical information	Clinical exome testing is performed using next-generation sequencing (NGS) technology. A patient’s blood DNA sample is compared to a reference sequence (representing the ‘normal’ human DNA sequence) in an attempt to identify differences between the two. If there are differences, they are reviewed by our expert laboratory geneticists and your physician to classify the findings and determine their pathogenesis.
Time limit for obtaining the result	25 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes)

Research	Price
Clinkor®	1000.00 лB.

BRCA Somatic
Description	The BRCA Somatic test detects BRCA1 and BRCA2 gene mutations and identifies patients likely to benefit from treatment with PARP inhibitors. Both genes play an important role in repairing damaged DNA, as they encode tumor suppressor proteins. The test covers somatic BRCA mutations, which are found in a variety of solid tumours, more commonly in breast, ovarian, pancreatic and prostate cancers. PARP inhibitors suppress the growth of cancer cells carrying mutations in the BRCA1 or BRCA2 genes. They target poly(ADP)ribose polymerases (PARPs), which play a crucial role in repairing damaged DNA. Mutations of somatic BRCA genes in patients with advanced ovarian and prostate cancer have been shown to be biomarkers of patient response to PARP inhibitors.
Required and intended for persons with:	Personal history of breast and/or ovarian cancer Personal history of prostate cancer Personal history of pancreas and/or peritoneum
Specifications	It is performed using the Oncomine BRCA assay on a next-generation Ion Proton sequencing platform (Thermo Fisher Scientific) and provides: >99% confidence in detecting somatic mutations <2% Refusal rate 100% sensitivity >99.3% positive estimated value >1000x depth of coverage
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Tumour block

Research	Price
BRCA Somatic	1150.00 лB.

RediScore®
Description	The RediScore® test is primarily recommended for all patients with ovarian cancer, but also when monitoring PARP inhibitor therapy for patient treatment or maintenance. The test will help the doctor explore the possibility of: Prescribing medications for ovarian cancer. Use of off-label medications for breast, pancreatic, and prostate cancer, as well as other solid tumors.
Why is the RediScore test important?	Numerous clinical studies have shown that about 50% of ovarian cancer patients can benefit from the administration of PARP inhibitors. These include patients with: BRCA 1/2 mutations Tumors with homologous recombination deficiency (HRD) Since 2014, four PARP inhibitors (PARPi) have been approved by the FDA: Olaparib, Niraparib, Rucaparib, and Talazoparib. Their use is approved for 4 types of cancer: ovarian, prostate, pancreatic and breast.
What does HRD mean?	Homologous Recombination Deficiency means the inability of a cell to repair its damage through the homologous recombination pathway. The presence of genomic instability is indicative of a failure of the HR pathway. Three biological parameters (‘genomic traits’) are used to calculate it: LOH – Loss of heterozygosity TAI – Telomeric allelic imbalance LST – Large Scale Transitions The BRCA1 and BRCA2 genes play a key role in the proper function of homologous recombination. Tumors carrying germline and/or somatic mutations in these genes are deficient with the homologous recombination (HRD) pathway. Determination of homologous recombination deficiency (HRD) is performed by: Analysis of tumor mutations in BRCA1 and BRCA2 genes Genome-wide instability measurement (GIS).
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Tumour block

Research	Price
RediScore®	2500.00 лB.

Microsatellite Instability (MSI)
Description	This test can help in choosing the most appropriate treatment and for further personalized cancer treatment. MSI is most commonly found in colon cancer and endometrial cancer. MSI has also been seen in cervical cancer, gastric cancer, glioblastoma, melanoma, ovarian cancer and prostate cancer.
The test for MSI	Determines prognosis in patients with stage II colorectal cancer (CLC). Identifies patients with an increased likelihood of developing hereditary nonpolyposis colorectal cancer (Lynch syndrome). Helps in the selection of patients with an indication for ColonAIQ. Helps predict 5-FU therapy. Predicts patient response to immunotherapy.
The MSI analysis	Instabilities in cancer-associated microsatellite loci across the genome are associated with better response to immunotherapy. Microsatellite instability-high (MSI-H) status can occur when the DNA mismatch repair (MMR) system is not functioning properly.

Cancer	Distribution of MSI	Histology
Breasts	<1%, unless occurring in young women with Hereditary non-polyposis colorectal cancer
Cervical	5%	Advanced cancer
Colorectal	15%	All cancers
Endometrium	Up to 33%	40% of endometrioid tumours and 2% of serous tumours
Stomach	15%	All cancers
Glioma	0-33%	Disputed data. Pediatric, young adult
Head and neck	None
Hepatocellular	<1%
Lung	<1%
Melanoma	2-77%	Inconsistent data
Eggs	10%	All cancers
Pancreatic and periampullary	1% in random PDAC, 10% in periampullary cancer	All cancers
Prostate	Up to 12%	Advanced stage cancers
Renal cell carcinoma	None
Sarcoma	None
Tumors of the fatty skin	25%	All cancers
Thyroid gland	1%	All cancers

Genomic DNA is extracted from tumor tissue after microscopic observation and macrodissection. Next-generation sequencing-based analysis uses 76 markers to assess microsatellite instability (MSI) status in both tumor-only and tumor and normal tissue samples using Ion Ampliseq technology.

MSI Analysis Specifications

Sequencing is performed using the next-generation sequencing platform Ion Gene Studio S5 Prime System (Thermo Fisher Scientific). The assay provides results for individual microsatellites and generates an MSI score. A sample is considered positive if the MSI score is >30.

For patients in whom their response to immunotherapy needs to be examined exclusively, the Immune Response Test is recommended, which includes three biomarkers to predict response to immunotherapy – TMB, MSI and PD-L1.

Time limit for obtaining the result

7 working days

What type of sample is needed for the test?

Tumour block

Research	Price
MSI	400.00 лB.

Single Genes – Single gene screening of KRAS, NRAS, EGFR, BRAF and other biomarkers for personalized cancer therapy selection
Description	In the case of biomarkers requiring single gene screening, this is possible using a variety of advanced molecular techniques such as NGS on the Ion GeneStudio S5 Prime System (Thermo Fisher Scientific), Real Time PCR on the Cobas® z 480 analyzer (Roche), QuantStudio 3 RealTime PCR System (ThermoFisher), and Size Analysis on the Applied Biosystems SeqStudio genetic analyzer (Thermo Fisher Scientific). In addition, FISH and IHC services are available. For any single-gene testing, please contact our team for further information. These biomarkers can be: Predictive: related to response to targeted therapy(KRAS – colon, lung), NRAS (colon), EGFR (lung), BRAF (all tumors), c-KIT – (GIST), PDGFRA (GIST), IDH1/IDH2 (cholangiocarcinoma), PIK3CA (breast), ESR1 (breast), EML4-ALK (lung) and additional biomarkers. Prognostic: associated with good/poor prognosis for disease progression (MGMT methylated glioma, 1p19q glioma, N-MYC FISH neuroblastoma and additional biomarkers) Diagnostic: their detection is pathognomonic for a specific cancer type (e.g. EWING sarcoma, IDH1/IDH2 glioma and additional biomarkers) Associated with specific drug metabolism (DPD-5FU, UGT1A1-Irinotecan and additional biomarkers)

Single Genes – Single gene screening of KRAS, NRAS, EGFR, BRAF and other biomarkers for personalized cancer therapy selection

Description

In the case of biomarkers requiring single gene screening, this is possible using a variety of advanced molecular techniques such as NGS on the Ion GeneStudio S5 Prime System (Thermo Fisher Scientific), Real Time PCR on the Cobas® z 480 analyzer (Roche), QuantStudio 3 RealTime PCR System (ThermoFisher), and Size Analysis on the Applied Biosystems SeqStudio genetic analyzer (Thermo Fisher Scientific). In addition, FISH and IHC services are available.

For any single-gene testing, please contact our team for further information.

These biomarkers can be:

Predictive: related to response to targeted therapy(KRAS – colon, lung), NRAS (colon), EGFR (lung), BRAF (all tumors), c-KIT – (GIST), PDGFRA (GIST), IDH1/IDH2 (cholangiocarcinoma), PIK3CA (breast), ESR1 (breast), EML4-ALK (lung) and additional biomarkers.
Prognostic: associated with good/poor prognosis for disease progression (MGMT methylated glioma, 1p19q glioma, N-MYC FISH neuroblastoma and additional biomarkers)
Diagnostic: their detection is pathognomonic for a specific cancer type (e.g. EWING sarcoma, IDH1/IDH2 glioma and additional biomarkers)

Associated with specific drug metabolism (DPD-5FU, UGT1A1-Irinotecan and additional biomarkers)

Research	Price (BGN)
RET mutations (exons 10-18) and fusions	1000.00
Mutations in exons 2, 3, 4 of the N-RAS gene	450.00
Mutations in exons 2, 3, 4 of the K-RAS gene	450.00
Mutations in exons 9, 11, 13, 17 of the C-KIT gene	450.00
Mutations in exons 2, 3, 4 of the K-RAS gene and exons 2, 3, 4 of the NRAS gene	550.00
EGFR and KRAS gene mutations	550.00
Mutations of exons 2,3,4 of the K-RAS gene / exons 2,3,4 of the N-RAS gene / exons 11,15 of the B-RAF gene	700.00
Mutations of exons 2, 3, 4 of the K-RAS gene and exons 2, 3, 4 of the N-RAS gene by liquid biopsy	1200.00
EGFR gene mutations in exons 18, 19, 20, 21 by liquid biopsy	550.00
EGFR mutations by liquid biopsy (NGS)	550.00
Mutations in exons 11 and 15 of the BRAF gene	450.00
Mutations in exons 9, 11, 13, 17 of the C-KIT gene and exons 12, 14, 18 of the PDGFRA gene	550.00
Mutations in exons 12, 14 and 18 of the PDGFRA gene	450.00
Mutations of exons 7,9,13,20 of the PIK3CA gene by liquid biopsy	1500.00
Mutation in exons 7, 9, 13, 20 of PIK3CA gene	450.00
ESR1 gene mutation, liquid biopsy by NGS	1000.00
ESR1 gene mutation by NGS	450.00
EML4-ALK via NGS	450.00
EML4-ALK by liquid biopsy	550.00
EML4-ALK by fluorescence in situ hybridization (FISH)	450.00
HER2 by NGS	450.00
Epidermal growth factor receptor variant III (EGFRIII)	450.00
Her2/Neu by fluorescence in situ hybridization (FISH)	450.00
EML4-ALK mergers	650.00
ROS-1 fusions	650.00
NTRK 1,2,3 fusions	650.00
Methylation of the MGMT gene promoter	800.00
1p/19q co-deletion by fluorescence in situ hybridization (FISH)	600.00
Toxicity of 5-fluorouracil (5FU): DYPD polymorphisms	300.00
Irinotecan toxicity	300.00
Response to tamoxifen /Tamoxifen/ (CYP2D6*4)	400.00
Toxicity of 5-fluorouracil (5FU): 4 polymorphisms	500.00
Analysis of a known familial mutation	240.00
Huntington’s disease by PCR fragment analysis	600.00
Spinal Muscular Atrophy (SMA) by MLPA	450.00
Charcot-Marie-Tooth disease type 1 (CMT1A) by MLPA	400.00
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) MLPA	400.00
C9ORF72 gene	1000.00
RPE65 gene	1000.00

If you wish to investigate another single indicator, please contact us further.

Gliogene®
Description	The Gliogene® test is recommended for all patients with gliomas, regardless of type, grade or age. It is essential for the correct classification of tumours, which has important implications for the therapeutic approach to patients.
What is a glioma?	Gliomas are a genetically, histologically and clinically heterogeneous group of tumors located in the central nervous system (brain or spinal cord) or in the peripheral nervous system. They can grow from different types of neuroglial cells and their subcategorization is essential for the differential diagnosis, management and treatment of patients.
The test is important for the following reasons	It can help in the proper differential diagnosis of gliomas to determine the exact type of tumor. This is important as different types of gliomas have different treatment approaches and prognosis. It can help predict the disease to determine the life expectancy of the patient. Mutations identified in the IDH1,2 genes are associated with better disease prognosis and benefit from radiotherapy, while mutations in the BRAF gene are associated with response to therapy with BRAF inhibitors. Methylation of the MGMT gene promoter provides a survival advantage, particularly in older patients with high-grade gliomas. This can help patients and their families better understand the situation and make appropriate plans. It can help in selecting the appropriate treatment as certain biomarkers correlate with response to specific treatments. Simultaneous co deletion of chromosomal regions 1p and 19q confers a favorable disease prognosis and predicts response to alkylating systemic therapy.
Gliogene® test specifications	The test uses advanced molecular techniques such as NGS, FISH and Real-time PCR. These technologies allow the simultaneous analysis of molecular biomarkers that, in combination with histopathological findings, provide a comprehensive picture for the better clinical management of each patient.
Time limit for obtaining the result	10 working days
What type of sample is needed for the test?	Tumour block

Research	Price
Gliogene®	1500.00 лB.

PD-L1 – Response to immunotherapy
Description	The PD-L1 test helps physicians determine whether a patient will benefit from immunotherapy, especially for non-small cell lung cancer (NSCLC), gastric adenocarcinomas, gastroesophageal sphincter adenocarcinomas, urinary tract adenocarcinomas, and other cancers.
The test is designed for the following cases	The initial treatment plan is complete and more treatment options are needed. Untreated tumors. Aggressive tumors that do not respond to standard treatment. Rare tumors. Tumour types with many available treatment options, such as lung cancer.
Technical specifications	One cancer-fighting approach is to block the protein PD-L1, which can prevent cancer cells from inactivating T cells through PD-1 and B7.1. The goal of immunotherapy is to boost the activity of the immune system to generate a more effective anti-cancer response. The PD-L1 test is performed using an immunohistochemical method that is used for Detection of PD-L1 protein in formalin-fixed and paraffin-embedded (FFPE)-tissue from non-small cell lung cancer (NSCLC), gastric adenocarcinomas, gastroesophageal sphincter adenocarcinomas, urinary tract adenocarcinomas and other cancers. For those patients in whom only their response to immunotherapy should be tested, an immune response that includes the three biomarkers predictive of response to immunotherapy: TMB, MSI, and PD-L1 is recommended.
Time limit for obtaining the result	7 working days
What type of sample is needed for the test?	Tumour block

Research	Price
PD-L1	450.00 лB.

TMB (Tumor Mutational Burden) – a prognostic marker of response to immunotherapy
Description	Response to Immunotherapy This analysis improves prediction of a patient’s response to immunotherapy for many cancers and helps the physician select the most appropriate individualized treatment. Tumor mutation burden (TMB) is FDA-approved and refers to the total number of somatic mutations present in the tumor genome. Tumors with a high mutational burden may have a higher percentage of neoantigens that would be expected to be more immunogenic than tumors with a relatively low mutational burden.
Technical characteristics	The test is performed using the Oncomine™ Tumor Mutation Load Assay (409 genes). It is a robust next-generation sequencing (NGS) targeted assay that provides accurate quantification of somatic mutations to assess tumor mutation burden in formalin-fixed, paraffin-embedded (FFPE) tissues. For patients whose response to immunotherapy needs to be tested, the Immune Response Test is recommended, which includes three biomarkers to predict response to immunotherapy – TMB, MSI and PD-L1.
Time limit for obtaining the result	10 working days
What type of sample is needed?	Tumour block

Research	Price
TMB	2000.00 BGN

Oikogene® – Genetic testing before conception – Getting started with family planning
Why genetic testing can change your life and the life of your childGenetictesting can help couples find out if they carry and are therefore at risk of passing on to their children diseases such as cystic fibrosis, sickle cell anaemia, spinal muscular atrophy, hereditary deafness, Tay-Sachs disease and others: such as cancer, cardiac and neurological syndromes. It is recommended that both parents be tested so that the test can provide information about the likelihood of the couple having a child with a serious genetic condition. If a genetic variant is found in a common gene, the couple can choose management options so that the child is born without the specific variant, avoiding the development of associated inherited syndromes.

Oikogene® – Genetic testing before conception – Getting started with family planning

Why genetic testing can change your life and the life of your childGenetictesting can help couples find out if they carry and are therefore at risk of passing on to their children diseases such as cystic fibrosis, sickle cell anaemia, spinal muscular atrophy, hereditary deafness, Tay-Sachs disease and others: such as cancer, cardiac and neurological syndromes. It is recommended that both parents be tested so that the test can provide information about the likelihood of the couple having a child with a serious genetic condition.

If a genetic variant is found in a common gene, the couple can choose management options so that the child is born without the specific variant, avoiding the development of associated inherited syndromes.

Do you know if you are a carrier of hereditary diseases?
It is estimated that 1 in 3 people carry an inherited pathogenic gene variant without symptoms or visible characteristics. In these cases, we say that the variant is inherited in an autosomal recessive or sex-linked manner. Individuals who have inherited from their parents a normal and variant copy of a gene responsible for a trait or genetic disease show no symptoms of the disorder but are at serious risk of passing the variant copy to their offspring.

Do you know if you are a carrier of hereditary diseases?

It is estimated that 1 in 3 people carry an inherited pathogenic gene variant without symptoms or visible characteristics.
In these cases, we say that the variant is inherited in an autosomal recessive or sex-linked manner. Individuals
who have inherited from their parents a normal and variant copy of a gene responsible for a trait or genetic disease
show no symptoms of the disorder but are at serious risk of passing the variant copy to their offspring.

Oikogene®

Expanded screening for inherited diseases

The test helps identify couples who are at risk of passing on a particular genetic disease to their children with a 25-50% chance, leading to more informed decision-making before conception.

It is a diagnostic test that allows advanced analysis of inherited genetic diseases, including the most common in the population, such as thalassemia, sickle cell anemia, cystic fibrosis, hereditary deafness, spinal muscular atrophy, and fragile X chromosome syndrome.

Includes testing for approximately 900 genes diagnostically covering 109 of the 113 genetic diseases recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) (PMID: 34285390). This refers to diseases characterized by onset in infancy and/or infancy and onset of severe symptoms.

Oikogene Pro®

Personalized screening for hereditary diseases

This is a diagnostic test that includes ≈900 genes from the Oikogene® test and an additional 181 or more genes (up to 3,000 genes) that are modulated by the couple’s family history.

The test is mainly recommended in cases where there is a history of cancer, cardiac or neurological syndromes.

These are diseases for which there are guidelines for their medical management so that preventive measures can be taken to improve a person’s life expectancy and quality of life. It is estimated that 1 in 200 people are predisposed to cardiac genetic disease and 1 in 300 people are predisposed to cancer.

Oikogene® and Oikogene Pro®
Oikogene® and Oikogene Pro® assays are suitable for	All women/couples who are planning to have or expecting a child and who want to reduce the risk of passing on an inherited genetic disease All women/couples who intend to have a child through natural conception or medically assisted reproduction (IVF) For couples after a cycle of medically assisted reproduction using donor sperm or donor eggs to rule out possible transmission of donor/donor variants
Technical information	These tests are designed to achieve maximum sensitivity and specificity. Sequencing is performed using the DNBSEQ-G400 MGI platform, using advanced next-generation sequencing (NGS) technology for complete analysis of the genes being tested. In addition, special techniques are used to control spinal muscular atrophy and fragile X chromosome syndrome.
Time limit for obtaining the result	3-4 weeks
What type of sample is needed?	EDTA blood sample (2 tubes)

Research	Price
Genetic screening for inherited diseases OikoGene Pro	2000.00 BGN
Genetic advanced screening for hereditary diseases OikoGene Pro (for two parents)	3100.00 BGN

Genetic Counselling – At Genekor Genetic Counselling is provided free of charge to all interested parties.
What is genetic counselling?	Based on your personal and family health history, your doctor may refer you for genetic counseling. Gives you information about how genetic diseases can affect you or your family. The genetic counselor will gather information about your personal and family health history (usually 3-4 generations back) and any other medical records and tests. They can then assess whether a genetic test and which one is right for you or a relative.
Reasons for genetic counselling	Helps to identify families or family members who are at possible risk of genetic disease by collecting and examining family history and inheritance patterns and assessing the chances of inheriting a genetic disease. Provides information on genetic testing and related procedures. Genetic counselors are trained to present complex and difficult-to-understand information about genetic risks, testing, and diagnosis to families and patients. They also discuss available options and can provide referrals to medical services, support groups and other health professionals.
Objectives of genetic counselling:	Help the family better understand the genetic condition Discuss options regarding disease management and the risks and benefits of further testing and other options Connect the patient and family with professionals who aim to guide them medically and/or psychologically Reduce anxiety associated with a condition
Genetic counselling can take place before, during or after testing	Pre-testing: Helps to understand the usefulness of genetic analysis as well as the possible outcomes that may arise from it. After your genetic consultation, you may decide to have genetic testing Post-test: Genetic counselling after testing can help you better understand your test results and treatment options, and refer you to other healthcare providers and advocacy and support groups. During an examination: in case the attending physician or the examined person requests clarification
Stages of life when genetic counselling may be needed	Managing Your Health: Genetic counseling for adults includes specialty areas such as cancer, neurology and cardiology. It can be helpful if you have symptoms of a disease or have a family history of a condition that makes you more likely to be affected by that condition, including: Hereditary cancer syndrome (e.g. breast, ovarian, colon, kidney, etc.) Familial hypercholesterolemia Muscular dystrophy and other muscle diseases such as Pompe disease Neurological diseases (e.g. Charcot-Marie-Tooth, familial amyloid polyneuropathy, autosomal dominant ataxias, etc.) Inherited metabolic disorders such as Gaucher disease, Tay-Sachs disease, Fabry disease, Friedreich ataxia, etc. Unigenic genetic diseases such as neurofibromatosis type 1 and 2, Huntington’s disease, etc. Cardiovascular diseases such as cardiomyopathies, arrhythmogenic syndromes and hereditary angiopathies associated with aneurysms (including syndromic forms such as Marfan, Noonan, Costello, etc.) Mitochondrial diseases inherited exclusively from the mother, such as MELAS and MERRF syndromes Managing your health and the health of your family: after you have been diagnosed with a disease, such as cancer or a neurological or cardiovascular disease, your doctor may ask you to undergo genetic testing. This will help: Pregnancy planning: genetic counseling before you become pregnant can address concerns about factors that may affect your baby during infancy or childhood or your ability to become pregnant. Genetic diseases that run in your family or your partner’s family Genetic defects (birth defects)
Genecor’s expert team of genetic counsellors	Г. Nasioulas: Head of the Consulting Team Ε. Papadopoulou – K. Г. Pepe – D. Bouzarelou

GENETIC TESTING FOR CARDIAC DISEASES

֍ Cordis DX® Tests

Cordis DX® – Genetic testing for cardiovascular disease

Description

Cordis DX® is a series of clinically validated tests with high sensitivity and specificity that analyze genes associated with cardiovascular disease, such as:

Arrhythmias
Cardiomyopathies (Hypertrophic Cardiomyopathy – HCM, Dilated Cardiomyopathy – DCM, Restrictive Cardiomyopathy – RCM, LVNC)
Hyperlipidaemias – Dyslipidaemias, such as Familial Hypercholesterolaemia
Aortic disorders – Aortic dissections
Pulmonary arterial hypertension
Congenital heart disease
Ehlers-Danlos syndrome
Marfan syndrome
Long-QT and Short-QT syndromes
Noonan syndrome
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia syndrome – CPVT

Why is Cordis DX® genetic testing important?

They offer the physician maximum differential diagnosis with high levels of sensitivity and specificity, saving valuable time and cost.

Diagnosis: Confirms the clinical diagnosis in a reliable and fast way and reduces the need for more invasive procedures. Accurate diagnosis is now possible through the use of genetic analysis, which minimizes dilemmas regarding disease management and prognosis and helps the physician assess the timing of surgical intervention. The contribution of the test to the diagnosis of inherited arrhythmogenic diseases that pose a high risk of sudden death in a structurally normal heart (e.g., long QT syndrome, Brugada syndrome, etc.) is important.

Prognosis: By knowing exactly which gene mutations are responsible for a patient’s disease, we can predict its progression by taking into account all the factors that affect that particular patient.

Can identify relatives carrying the same mutation and are at increased risk of developing the same disease. The contribution of the test is particularly important in families carrying genes associated with sudden death.

Management: proper management of the patient and their family is based on the correct diagnosis and prognosis of the disease, so that the physician is guided to the most appropriate treatment.

Informs about avoiding certain medications and guides lifestyle changes to avoid heart attacks as best as possible.
Supports the decision for early surgery and placement of an implantable cardioverter-defibrillator or pacemaker.
Identifies appropriate testing intervals and possible interventions for family members at risk.

CORDIS DX®

The CordisDX® test analyses mutations in 292 genes associated with all possible inherited cardiovascular diseases.

CORDIS DX® LDL
The test analyses the 4 major genes whose mutations are associated with familial hypercholesterolaemia

APOB – LDLR – LDLRAP1 – PCSK9

Cordis DX® Dyslipidemia DSLP

The test analyses the 34 genes whose mutations are associated with Dyslipidemia Oficialis

APOB – LDLR -LDLRAP1 – LIPA -PCSK9 – ANGPTL3 – MTTP – SAR1B -ABCG5 -AGTR1 HSD11B2 – APOE – NOS2 – APOA5 – APOC3 – LPL – CETP – SCARB1 – NPC1 -NPC2 – FTO – MC4R -SMPD1 – SCNN1A – SCNN1B – SCNN1G – LPA – ABCG8 – LIPC -INSIG2 -SCNN1D -STAP1 – CH25H – PLTP

Time limit for obtaining the result

15 working days

What type of sample is needed for the test?

Blood sample with EDTA (2 tubes)

Research	Price
Cordis DX – Genetic testing for cardiovascular disease	1200.00 BGN

CORDIS DX® LDL
Description	The Cordis DX® LDL test analyzes the 4 major genes whose mutations are exclusively associated with familial hypercholesterolemia. See a sample result.
Time limit for obtaining the result	15 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes)

Research	Price
Cordis DX LDL – analysis of 4 major genes associated with familial hypercholesterolemia	1000.00 лB.

MyThrombogene®
Description	Approximately 1 in 7 people suffer from thrombophilia. MyThrombogene® tests for specific mutations in genes that are associated with thrombophilia and significantly increase the risk of thrombosis.
When should you get tested for thrombophilia?	If you are a first-degree relative of someone with high-risk thrombophilia. If you are pregnant and have had a blood clot in the past. If you have a family history of venous thrombosis. If you have specific blood test results – such as an unexplained prolonged activated partial thromboplastin time (aPTT) or an abnormal result on a certain type of coagulation test. If you develop venous thrombosis or pulmonary embolism. If you have recurrent episodes of venous thrombosis or pulmonary embolism or inflammation of the veins (thrombophlebitis). Recurrent miscarriages. A blood clot in an unusual part of the body (for example, the abdominal cavity). Thrombosis usually occurs after the age of 40 and after exposure to various risk factors, but there is also the possibility that it may be hereditary. It is due to the improper action of the factors of the mechanism of hemostasis regulation. In case there is a genetic predisposition, there is a correspondingly greater chance of clot formation after exposure to specific risk factors.
Risk factors for the occurrence of thrombosis:	Age, especially over 40 Pregnancy Smoking Chronic conditions such as heart failure Hormone replacement therapy or taking birth control pills Diagnosis of cancer or diabetes
Pregnancy and thrombophilia:	Pregnancy is a naturally thrombogenic state of the body. Some complications during pregnancy are associated with the occurrence of blood clots in people with a genetic predisposition to thrombophilia. Complications most often result from the genetic factors that a person carries combined with the risk factor to which they are exposed, in this case pregnancy. Women who carry one or more genetic factors for a predisposition to thrombophilia do not necessarily develop a complication during their pregnancy, but have a higher risk. Many obstetricians urge expectant mothers to undergo molecular testing for thrombophilia, as knowledge can prevent a possible complication through appropriate follow-up. Thrombophilia has no clear symptoms. Often patients do not find out about its presence until thrombosis or other complications occur. For the most part, thrombophilia is genetically determined; it is appropriate that every pregnant woman be counseled and, if desired, tested for its presence. In this way, appropriate prophylaxis can take place and possible problems and disturbances in the natural course of pregnancy can be avoided.
How is the presence of thrombophilia established?	The test is genetic and the four most common genetic variations associated with an increased risk of thrombophilia can be tested using venous blood from the patient. These are: Factor V Leiden Factor II (20210G/A) PAI (4G/5G) MTHFR (C677T)
Time limit for obtaining the result	10 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes) or buccal swab

Research	Price
MyThrombogene®	450.00 лB.

Cordis DX® DSLP

Description

The Cordis DX® Dyslipidemia Test (DSLP) analyzes the 34 genes whose mutations are exclusively associated with Dyslipidemia Oficialis. See an example result.

APOB	LDLR	LDLRAP1
LIPA	PCSK9	ANGPTL3
MTTP	SAR1B	ABCG5
AGTR1	HSD11B2	APOE
NOS2	APOA5	APOC3
LPL	CETP	SCARB1
NPC1	NPC2	FTO
MC4R	SMPD1	SCNN1A
SCNN1B	SCNN1G	LPA
ABCG8	LIPC	INSIG2
SCNN1D	STAP1	CH25H
PLTP

Time limit for obtaining the result

15 working days

What type of sample is needed for the test?

Blood sample with EDTA (2 tubes)

Research	Price
Cordis DX Dyslipidemia – Analysis of 34 genes associated with dyslipidemia	1000.00 лB.

iGenome®

Why is the iGenome® test so important?

The iGenome® genetic test analyses the entire genome, increasing the chances of diagnosing inherited genetic diseases.

Aims to find variants in genes associated with well-characterized genetic conditions and variants in less mapped genomic regions. Compared to more targeted approaches, it reveals changes even in parts of the genome that do not encode proteins.
More reliably detects deletions and duplications of genomic regions, offering increased diagnostic efficiency. Consequently, it may contribute to the elucidation of phenotypes that remain undiagnosed.
The test is extremely useful in prenatal screening to prevent the inheritance of harmful and life-threatening genetic factors.

Why is genetic counselling before and after the test important?

Genetic counselling by a clinical geneticist and/or genetic counsellor is recommended to explain the possibilities and limitations and to better understand the results.

When is the whole genome sequencing test recommended for diagnosis?

When is whole genome sequencing recommended for prevention?

– Phenotypic data or family history strongly suggest a genetic cause.

– A patient presents with a specific genetic disease, but with a high degree of genetic heterogeneity, making the analysis of multiple genes simultaneously by WGS (whole genome sequencing) a more practical approach.

– A patient presents with a possible genetic disorder, but the specific genetic tests available for that phenotype and already administered have not resulted in a diagnosis.

– An infant with a possible genetic disorder for which specific genetic tests, including targeted sequencing tests available for that phenotype, have not clarified the diagnosis.

– Carriage screening: can be used to identify individuals/couples carrying a single copy of a genetic variant for a specific recessive disease. The information can be vital for family planning decisions and preventing the transmission of genetic diseases to offspring.

– Presymptomatic screening in patients for dominant diseases with shorter disease onset, beginning the process of childbearing.

– Asymptomatic patients interested in the iGenome test to assess their risk of developing a genetic disease.

Technical information

The iGenome® test is performed using a specialized technology called Next Generation Sequencing (NGS). A DNA sample is taken from either a blood or buccal sample from the patient. The patient’s DNA is compared to a reference sample (representing the “normal” human DNA sequence) in an attempt to find any differences between the two. If differences are found, they are examined by expert laboratory geneticists and your doctor.

Time limit for obtaining the result

4 months

What type of sample is needed for the test?

Blood sample with EDTA (2 tubes)

Research	Price
Whole genome sequencing iGenome	2700.00 BGN
Whole Genome Sequencing iGenome (for two)	4500.00 BGN

GENETIC TESTING FOR NEUROLOGICAL DISEASES

֍ Cerebrum DX® Tests

Cerebrum®
Description	The Cerebrum DX® neurological disease assays are a series of comprehensive and clinically validated, highly sensitive and specific multigene tests for: Neuromuscular diseases Neuropathies and congenital neurodegenerative disorders Ataxia Epilepsy Kinetic diseases Neurogenetic diseases Autisms Cardiomyopathies and skeletal muscle diseases, etc.
Cerebrum® as a disease management tool:	It helps personalize treatment based on the patient’s specific genotype and avoid unnecessary medications and interventions. Recommends monitoring other organs that may not have been previously examined. Assists with family planning and acts as a consultant in establishing necessary prenatal control. May offer patients the opportunity to participate in clinical trials and newly developed targeted therapies.
The procedure from receipt to reporting of genetic test results:	A sample is sent from the person tested to the laboratory. A family tree is obtained – Prenatal counselling. Sample processing in the laboratory. Results within 3-5 weeks – Genetic update.
Why are Cerebrum DX® genetic tests important?	They offer the physician maximum differential diagnosis with high levels of sensitivity and specificity, saving valuable time and cost per patient case. Diagnosis: Confirms the clinical diagnosis in a reliable and quick way and reduces the need for more invasive procedures (e.g. muscle biopsy, lumbar puncture, EMG). It is a useful tool, minimizing the dilemmas in managing differential diagnosis, especially in diseases such as Myotonic Dystrophy Type 2 or in diagnoses such as Spinal Muscular Atrophy and Autosomal Dominant Cerebellar Ataxia. Prevention: by pinpointing the gene mutations responsible for an established disease, we can predict its course, taking into account all factors relevant to the individual patient. Relatives carrying the same mutation and at increased risk of developing the same disease can be identified and properly followed up. The contribution of the genetic test to diseases such as Myopathies is very important, but also in the monitoring and management of the disease in the family, indicating the need for prenatal control in each case. It also helps with prenatal/preimplantation screening, if requested by the person being tested. Management: is based on the reliability of the diagnosis and prognosis of the disease so that the physician is guided to the most appropriate treatment and correction. Offers an immediate response regarding the most appropriate therapeutic approach for each personal case. A typical example is Duchenne Muscular Dystrophy – diagnosis and management are based on genetic testing of the patient to detect and correct the dystrophin gene mutation.

Tests to personalize treatment
FENOTYPE	GENIE	TYPE OF TREATMENT	PHARMACEUTICAL SUBSTANCE
Duchenne/Becker muscular dystrophy (DMD)	Dystrophin	Targeted therapy	Eteplirsen, Golodirsen, Ataluren, Casimersen
Spinal muscular atrophy	SMN1/SMN2	Targeted therapy	Nusinersen, Onasemnogene abeparvovec, Risdiplam
Retinitis pigmentosa	RPE65	Target therapy	Voretigene, Neparvovec
Leber’s congenital amaurosis	RPE65	Targeted therapy	Voretigene, Neparvovec
Amyotrophic lateral sclerosis (ALS)	SOD1	Targeted therapy	Tofersen
Familial amyloid polyneuropathy FAP	TTR mRNA	Targeted therapy	Inotersen

Cerebrum ® DX

Allows the analysis of over 5,200 genes associated with various neurological diseases. It is a comprehensive test for the diagnosis, prognosis and management of neurological diseases such as Hereditary Spastic Paraplegia, Parkinson’s, Migraines and others.

The iGenome® test analyses the entire genome and aims to detect variants in genes associated with inherited diseases, assisting the physician in the diagnosis of diseases with an unclear phenotype, but also in prenatal screening.

The MyWES® assay examines all coding regions of the human genome (over 20,000 genes – Whole Exome Sequencing) and is recommended for diagnosis and case management where nothing has been found in gene panels, and in cases where diagnosis is particularly difficult, as in the case of ALS – Amyotrophic Lateral Sclerosis.

Time limit for obtaining the result	25 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes)

Research	Price
Cerebrum DX – Multigene test for neurological diseases	1200.00 lv.
Cerebrum DX Focus – Multigene test for a specific neurological disease	1100.00 BGN

Cerebrum® Ataxia
Description	The assay was created for the diagnosis and management of hereditary ataxias. Autosomal dominant cerebellar ataxias: Caused by expansion of triplet repeats of CAG nucleotides and SCA3, SCA6, SCA1, SCA2, SCA7 and SCA8 are in descending order. The most frequently observed subtypes are SCA7 and SCA1, but expansions of SCA8 are also present. It is due to a combination of triplet CTA/CTG nucleotides located in a non-coding region of the gene. In case of a negative result, the use of the Cerebrum DX® test is recommended. Cerebrum® Ataxia covers the following genes and disease types: FXN, SCA1, SCA2,SCA3,SCA6, SCA7 and SCA8**
Cerebrum® as a disease management tool:	It helps personalize treatment based on the patient’s specific genotype and avoid unnecessary medications and interventions. Recommends monitoring other organs that may not have been previously examined. Assists with family planning and acts as a consultant in establishing necessary prenatal control. May offer patients the opportunity to participate in clinical trials and newly developed targeted therapies.
The procedure from receipt to reporting of genetic test results:	10 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes)

Research	Price
Cerebrum Ataxio for hereditary ataxias (FXN, SCA1, SCA2,SCA3,SCA6, SCA7 and SCA8)	700.00 lv.

Cerebrum® Arrays

Description

The Cerebrum® Arrays analysis is based on the Microarrays method, analysing chromosomal abnormalities, enabling us to identify and diagnose developmental disorders and intervene precisely in their management.

The study analyzed the following major gene rearrangements:

The CytoScan 750K Suite includes 750 thousand markers for gene rearrangement analysis (including 200 thousand SNPs and 550 thousand non-polymorphic markers).

The procedure from receipt to reporting of genetic test results:

15 working days

What type of sample is needed for the test?

Blood sample with EDTA (2 tubes)

Research	Price
Cerebrum Arrays – Analysis for chromosomal abnormalities using the Microarrays method	1200.00 BGN

Cerebrum® Mito

Description

The Cerebrum® Mito assay is based on next-generation sequencing (NGS) technology, which enables the complete sequencing of 37 mitochondrial DNA genes.

It is a comprehensive test for the diagnosis, prognosis and management of mitochondrial diseases such as Mitochondrial Encephalomyopathy (MELAS), Epilepsy with Serrated Red Fibers Syndrome (MERFF), Kearns-Sayre Syndrome (KSS) and others.

Cerebrum® Mito analyzes mitochondrial DNA and tumors such as Leber/LHON, MERFF, Leigh, MELAS, MELAS, NARP, CPEO

The procedure from receipt to reporting of genetic test results:

25 working days

What type of sample is needed for the test?

Blood sample with EDTA (2 tubes)

Research	Price
Cerebrum mito – Comprehensive test for mitochondrial diseases	1000.00 лB.

Pharmacogenomics and tests for Target Therapy

֍ Pharmacogenomics Tests

MyTheragen®
Description	The MyTheragene® pharmacogenomics test helps the physician select the most appropriate drug and dose for each patient’s optimal response. In this way, the highest possible effectiveness is achieved, significantly reducing the cost and time of treatment and/or disease/syndrome management for both the patient and the physician. Analyzes each patient’s metabolic pathway for over 500 pharmaceutical substances and drugs associated with common and everyday ailments such as headaches, high blood pressure, etc., but also with difficult to manage diseases and disorders such as schizophrenia, depression, neurogenic disorders, etc. Cardiology Neurology Psychiatry Oncology Endocrinology Gynaecology Gastroenterology Immunology Dermatology Nephrology Ophthalmology Urology Otorhinolaryngology Rheumatology Haematology
Who is MyTheragene® suitable for?	Patients with complex medication regimens and several medical conditions Patients who show little or no response to current medications Patients experiencing side effects from current treatment Patients with chronic diseases Patients with rare or severe disorders Patients with allergies to medicinal substances
Technical characteristics of the test:	Pharmacogenomics is a rapidly growing field of clinical pharmacology that deals with the study and investigation of genetically determined alterations that affect: metabolism (pharmacokinetics) the action (pharmacodynamics) of drugs on humans. Proteins and enzymes that regulate individual response to drugs often show functional differences due to genetic background. MyTheragene® is an innovative multi-gene assay with high sensitivity and specificity that is based on the science of pharmacogenomics and analyzes genes related to the metabolic pathway of drugs.
Deadline for receipt of result:	10 working days
What type of sample is needed for the test?	Blood sample with EDTA (2 tubes)

Research	Price
MyTheragen®	1000.00 лB.

Warfarin Test CYP2C9 & VKORC1 – Pharmacogenomic Test for Warfarin Administration

Description

The CYP2C9 and VKORC1 genes are examined to determine the metabolic pathway of the drug Warfarin and the optimal starting dose for the patient. Warfarin is prescribed in patients to control severe thrombolytic conditions.

Why is testing important before Warfarin administration?

According to FDA guidelines:

Reduced Warfarin is required in patients with genetic polymorphisms of CYP2C9 and/or VKORC1 that result in limited activity.
Pharmacogenetic diagnostic testing of CYP2C9 and VKORC1 early in Warfarin therapy may reduce the incidence of serious side effects and improve achievement of INR stability.

What type of sample is needed for the test?

EDTA blood sample (two tubes) or buccal sample

Clopidogrel Test – CYP2C9 & CYP2C19 & ABCB1 – Pharmacogenomic test for Clopidogrel administration

Description

The test is based on pharmacogenomics and determines the potential of variation of Clopidogrel in the patient, the possibility of thrombosis after its administration and the appropriate dose in each case.

Clopidogrel is a medicinal substance with antithrombotic action. Despite the clinical benefit achieved by the administration of Clopidogrel in patients with cardiovascular disease, a significant number of patients still experience cardiovascular events with stent or thrombosis after coronary artery bypass grafting.

Why is testing important before administering Clopidogrel?

Among genetic factors, polymorphisms of the CYP2C9, CYP2C19, and ABCB1 genes significantly affect the pharmacokinetic and pharmacodynamic properties of Clopidogrel.

Polymorphisms in CYPs genes causing reduced enzyme activity result in lower plasma levels of the active metabolite of Clopidogrel and less inhibition of platelet function.

Therefore, there is a higher risk of a new thrombotic event after acute coronary syndrome (ACS) or percutaneous coronary intervention (PCI). The C3435T polymorphism in the ABCB1 gene is associated with reduced drug absorption from the gut, reducing its antiplatelet activity.

On the other hand, in subjects with the CYP2C19*17 allele associated with increased enzyme activity, Clopidogrel exhibited enhanced protective activity against the development of thrombosis and increased inhibition of P2Y12, increasing the risk of bleeding.

Therefore, it is important to know the possibility of variations of Clopidogrel in each patient and the appropriate dose for the best possible treatment.

What type of sample is needed for the test?

EDTA blood sample (two tubes) or buccal sample

Thiopurine Test – TPMT
Description	The test is based on pharmacogenomics and determines the metabolic pathway of Thiopurine group drugs. Its main purpose is to assess the risk of severe myelosuppression after their administration.
Why is testing important before administering Thiopurine?	The activity level of the TPMT enzyme or the genetic basis behind this activity should be tested before treatment with Thiopurine to make sure that patients receiving these drugs can metabolize them. If a person’s level of TPMT activity is too low, he or she may fail to metabolize thiopurines effectively, which can lead to serious side effects. About 1 in 300 people have severe TPMT deficiency, and about 10% of the population has lower than normal TPMT levels. Individuals in both cases are at increased risk due to the toxicity of the drug. This may include suppression of the bone marrow (myelosuppression) and/or very reduced levels of blood cells such as red blood cells, white blood cells and platelets (haematopoietic toxicity). This can lead to complications such as anaemia, serious infections and/or excessive bleeding.
Time limit for obtaining the result	7 working days
What type of sample is needed for the test?	EDTA blood sample (2 mi) or buccal swab

Research	Price
TPMT	400.00 lv.

Siponimod Test – CYP2C9 – Pharmacogenomics test for Siponimod administration

Description

The test is based on pharmacogenomics and identifies the metabolic pathway of the drug substance Siponimod, which is administered to patients with multiple sclerosis. The CYP2C9 test is considered essential to determine the drug candidate and appropriate dose prior to initiation of treatment.

Siponimod is contraindicated in patients with CYP2C9*3/3 genotype
Contraindications for Siponimod include patients homozygous for the CYP2C93/*3 genotype. They may have significant arrhythmias or conduction abnormalities (unless the patient has a pacemaker) and with myocardial infarction, angina, stroke, decompensated heart failure, or class III or IV heart failure.

Time limit for obtaining the result

10 working days

What type of sample is needed for the test?

EDTA blood sample (2 mi) or buccal swab

Research	Price
CYP2C9	450.00 лB.

Research by specialties

ONCOLOGY	BACK SURGERY	SURGERY	GYNECOLOGY	GASTROENTEROLOGY	GENERAL MEDICINE	NEUROLOGY/PSYCHIATRY	PULMOLOGY
HEREDIGENE	HEREDIGENE	HEREDIGENE	HEREDIGENE	HEREDIGENE	MYTHERAGENE	MYTHERAGENE	KRAS
COMPLIT (ALL)	BRCA	BRCA	BRCA	KRAS	HEREDIGENE		EGFR
PRIME DX (ALL)			MYTHERAGENE	PRIME DX (ALL)			PD-L1
REDISCORE							ROS-1
BRCA							PRIME DX (ALL)
KRAS
EGFR
ESR1
PD-L1

About Genekor

Genekor specialises in molecular genetics.

Since its establishment in 2007, Genekor Medical SA has systematically developed innovative molecular assays, engaged in genetic counselling and research. It has established itself as a preferred partner in molecular analytics, providing medical professionals with precise, data-driven solutions to improve patient outcomes.

Genekor offers physicians all the effective tools of molecular science for the diagnosis, prognosis and personalized treatment of patients in the fields of oncology, cardiology, neurology and pharmacogenetics, using state-of-the-art technology as well as scientific experience and expertise.

Contact us for more information

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+359 884 046 993

f02	Milk	Milk
f78	Casein	Casein
f76	Alpha-lactalbumin	Alpha-lactalbumin
f77	Beta-Lactoglobulin	Beta-Lactoglobulin
e204	Bovine serum albumin	Bovine serum albumin
f01/f75	Egg white/egg yolk mix	Egg white/yolk mix
f09	Rice	Rice
f14	Soybean	Soybeans
f92	Banana	Banana
f26	Pork meat	Pork meat
f27	Beef meet	Beef
f83	Checken meet	Chicken
fx10	Flour mix Wheat,Rye,Barley & Oat (flours that contain Gluten)	Flour mix Wheat,Rye,Barley & Oats (flours containing gluten)
f45	Beaker’s Yeast	Breaker’s yeast
d01/d02	D.pteronyssinus/D.farinae mix	Mix of domestic mite in Europe and domestic mite in North America
m02/m06	Cladosporium herbarum/Altenaria alternate mix	Cladosporium herbarum/Altenaria alternate mix
t03/t07	Birch pollen/Oak pollen mix	Birch pollen/oak pollen mix
t02/t04	Alder pollen/Hazel pollen mix	Alder pollen/ Hazel pollen mix
gx7	6 Grass mix- cockfoot pollen,Meadow fescue pollen , Rye grass pollen , Timothy grass pollen, Kentucky blue grass pollen , Velvet grass pollen	6 Grasses Mix Coon’s Head Pollen, Meadow Fescue Pollen, Rye Grass Pollen, Timothy Grass Pollen Meadow Broom Pollen, Meadow Woolly Meadow Pollen
tlgE	Total IgE	Total IgE

– Egg (whole)		– Cow/goat/sheep milk;
– Yoghurt		– Casein
– Cottage cheese		– Kelp
– Nori		– Wakame
– Spirulina		– Chlorella
– Avocado		– Broccoli
– Cauliflower		– Ginger
– Cabbage (white and red)		– Carrot
– Celina		– Cucumber
– Onion		– Leek
– Spinach		– Potato
– Pepper (green, red , yellow)		– Red beetroot
– Apple		– Pear
– Blackcurrant		– Banana
– Watermelon		– Melon
– Olive (red and green)		– Orange
– Grapefruit		– Lemon
– Strawberry		– Raspberry
– Blueberry		– Tomato
– Kinoa		– Chia (seeds)
– Almond		– Peanut
– Porridge		– Peas
– Lentil		– Chickpea
– Linseed		– Bread yeast
– Maize		– Durum wheat
– Gluten		– Rye
– Barley		– Oats
– Rice		– Wheat
– Honey

– Lamb	– Beef	– Pork
– Chicken	– Turkey	– Cod
– Trout	– Salmon	– Sardine
– Flounder	– Tuna	– Prawn
– Casein	– Cow’s milk	– Sheep milk
– Goat milk	– Camembert	– Parmesan
– Roquefort	– Egg yolk	– Egg white
– Apple	– Pear	– Cherry
– Plum	– Grapes (white and red)	– Strawberry
– Raspberry	– Grapefruit	– Orange
– Lemon	– Pineapple	– Banana
– Furma	– Kiwi	– Mango melon
– Mango	– Peach	– Olive (green and black)
– Fennel (bulb)	– Cucumber	– Green flounder (raw)g
– Asparagus	– Spinach	– Dmat
– Courgettes	– Carrot	– Potato
– Garlic	– Horseradish	– Red radish
– Celina	– Onion	– Beans
– White beans	– Peas	– Lentils
– Soya	– Mushrooms	– Cauliflower
– White cabbage	– Basil	– Curry
– Fennel (spice from dried leaves)	– Parsley	– Mint
– Kimion	– Black pepper(grains)	– Thyme
– Cinnamon	– Cafe	– Cocoa
– Black tea	– Bread yeast	– Buckwheat
– Millet	– Maize	– Rice
– Rust	– Wheat	– Mustard seeds
– Sesame	– Peanut	– Hazelnut
– Coconut	– Almond	– Sham-peanut
– Walnut

– Egg – whole		– Cow’s milk;
– Garlic;		– Ginger;
– Mushrooms;		– Cocoa;
– May Bread;		– Beef;
– Chicken;		– Lamb;
– Pork;		– Salmon, Trout;
– Shrimp, Crab, Lobster, Mussels;		– Fish Ton;
– Fever, Flounder;		– Broccoli;
– Cabbage – white, red;		– Carrot;
– Celina;		– Cucumber;
– Leek – onion;		– Pepper – green, red, yellow;
– Potato;		– Apple;
– Currant;		– Grapefruit;
– Watermelon, Melon;		– Olives – black, green;
– Orange, Lemon;		– Strawberries;
– Tomatoes;		– Almonds;
– Soy;		– Peas, Lentils, White and Green Beans;
– Hazelnuts;		– Maize;
– Durum wheat;		– Gluten;
– Oats;		– Rye;
– Wheat;		– Rice;

t03	Birch pollen	Birch pollen
t02	Alder pollen	Alder pollen
t04	Hazel pollen	Hazel pollen
t07	White Oak pollen	White oak pollen
t09	Olive pollen	Olive pollen
g06	Timothy Grass pollen	Timothy grass pollen
g12	Rye pollen	Rye pollen
w01	Ragweed pollen	Ragweed pollen
w06	Mugwort pollen	Wild wormwood pollen
w09	Plantain pollen	Plantain pollen

Genekor Medical SA and Medical Diagnostic Laboratories “Kandilarov” joined forces

The collaboration will focus on several key areas in oncology, including:

Research

gene testing for cancer

֍ Cancer Molecular Tests

GENETIC TESTING FOR CARDIAC DISEASES

֍ Cordis DX® Tests

GENETIC TESTING FOR NEUROLOGICAL DISEASES

֍ Cerebrum DX® Tests

Pharmacogenomics and tests for Target Therapy

֍ Pharmacogenomics Tests

Research by specialties

About Genekor

Genekor specialises in molecular genetics.

Contact us for more information

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