Genetic counseling is a clinical evaluation process in which an individual's health status and family history are analyzed through a genetic perspective. The primary goal of this process is to determine the most appropriate genetic test for the individual, interpret the results with expertise, and provide guidance to support accurate diagnosis and personalized treatment decisions.
During the genetic counseling process, you may encounter terms such as DNA, gene, chromosome, autosomal recessive and dominant, X-linked recessive and dominant inheritance, homozygous and heterozygous, mutation, translocation, deletion and duplication, copy number variation, genetic and pathogenic variants, Variants of Uncertain Significance (VUS), carrier status, polygenic risk score, methylation, and epigenetics. These terms will be explained clearly and understandably along with your questions.
In pre-test counseling, patient-specific clinical findings and family medical history are comprehensively evaluated. The most suitable genetic test is planned with a patient-specific approach by reviewing existing genetic tests and other medical examinations. Information is provided regarding the scope of the test, its technical limitations, and the potential impact of its results on the diagnosis and treatment process.
In a post-test genetic counseling session, genetic test results are evaluated clearly and understandably within the context of the individual's clinical condition. The implications of the findings for diagnosis, disease management, and potential treatment options are explained. In necessary cases, recommendations for follow-up, additional examinations, or evaluations for family members are shared.
Yes, genetic counseling services are provided in English as well as Turkish.
Most genetic counseling and testing services are outside the scope of general health insurance, and fees are covered by the patient. All cost details are shared transparently prior to your appointment. Please contact us to learn more about your private insurance coverage and our contracted providers.
A follow-up consultation is recommended if there are updates in your personal or family medical history, such as new diagnoses. Additionally, we advise a re-evaluation for pregnancy planning, new treatment options, or to review previous results in light of the latest scientific advancements.
Bringing medical records is not mandatory; however, documents regarding your personal or family health history can significantly assist the evaluation process. If our genetics specialist requires additional information for a more comprehensive risk assessment, you will be guided on the necessary documentation.
No, fasting is not required for genetic testing. Since the genetic data being analyzed is not affected by food or drink consumption, the time of day the blood sample is collected has no impact on the results. You may attend your appointment at any time of the day without changing your routine.
A genetic test is a molecular analysis performed to identify changes within DNA or chromosomes. These tests are utilized to diagnose hereditary conditions, determine genetic risk factors, or predict individual responses to specific treatments. Such genetic variations can be inherited from parents (germline) or may occur for the first time in an individual (de novo).
The turnaround time for genetic tests varies depending on the type and scope of the analysis. The estimated reporting period for your specific test will be shared with you in advance, and you will be kept informed throughout the process.
Yes. Genetic conditions do not always present with a clear family history; some genetic changes may occur for the first time in an individual (de novo), or a limited family history may obscure existing risks. Depending on your personal health status, pregnancy planning, or your physician’s clinical assessment, genetic testing may be recommended. In this regard, our genetic counseling service provides guidance in identifying the most appropriate test for you.
A genetic variant / mutation refers to a permanent change in the DNA sequence of a gene. Depending on their impact on gene function and health, these variations are classified as benign, pathogenic (disease-related), or variants of uncertain significance (VUS). The accurate evaluation of genetic variants is essential for understanding disease risk, establishing diagnoses, and guiding personalized treatment strategies.
A genetic test result indicates whether a variant was detected in the analyzed genes and how this finding is interpreted based on current scientific knowledge. The clinical significance of the result depends on the nature of the detected variant and the primary objective of the test. In some cases, the result may confirm a diagnosis, assess disease risk, or guide treatment and monitoring strategies. Alternatively, a variant of uncertain significance (VUS) may be identified, which may require periodic re-evaluation as new scientific data emerges.
A Variant of Uncertain Significance (VUS) refers to a genetic change for which current scientific data is insufficient to determine its impact on health. Based on existing evidence, these variants cannot be definitively classified as either "benign (harmless)" or "pathogenic (disease causing)". As scientific literature and genetic databases are continuously updated, it is recommended that VUS findings be re-evaluated periodically (typically every 12–24 months). VUS results are generally not utilized as a sole basis for medical or clinical treatment decisions.
No, the absence of a clinically significant genetic variant does not imply that all health risks are eliminated. Certain genetic changes may fall outside the detection limits of current testing technologies. Furthermore, many conditions develop due to environmental and epigenetic factors (such as DNA methylation and histone modifications) that alter gene expression without changing the DNA sequence itself. Therefore, test results should always be evaluated by a specialist in conjunction with clinical findings.
Being a carrier means having a genetic change in only one of the two copies of a gene, without developing the associated disease. Carriers are typically healthy and show no clinical symptoms. Awareness of carrier status is especially crucial during family planning, as it allows for the assessment of the risk of passing a genetic condition to offspring and enables informed decision-making regarding reproductive options.
Autosomal dominant conditions occur when a genetic change in only one of the two copies of a gene is sufficient to cause the disease. If one parent carries this genetic change, there is a 50% chance in each pregnancy that the child will inherit the condition, regardless of gender. These conditions are often observed across multiple generations, making family history an essential component of the evaluation.
Autosomal recessive conditions occur when there is a genetic change in both copies of a gene. In this inheritance pattern, parents are typically unaffected "carriers" who hold only one copy of the altered gene. When both parents are carriers of the same condition, there is a 25% chance in each pregnancy that the child will be affected, regardless of gender. Additionally, there is a 50% chance that the child will be a carrier.
X-linked inheritance refers to genetic conditions caused by pathogenic variants in genes located on the X chromosome. Since males (XY) have only one X chromosome, a variant in this single copy is sufficient to cause the disease. Females (XX), having two X chromosomes, are typically "carriers" and often remain asymptomatic due to the second healthy copy of the gene. In this pattern, the condition is not passed from father to son; however, sons of a carrier mother have a 50% risk of inheriting the condition in each pregnancy.
A de novo mutation is a genetic change that appears for the first time in an individual and is not present in either parent. These mutations can occur in the egg or sperm cell, or during early embryonic development. In some instances, a phenomenon called "gonadal mosaicism" may occur, where a mutation absent in the parent's somatic cells is present in a subset of their reproductive cells. This explains why the same de novo mutation can occasionally be observed in more than one sibling. Although they arise for the first time in the individual, de novo mutations can be passed on to future generations if they affect the individual's germ cells.
Yes, a family history of cancer may necessitate an evaluation of hereditary cancer risks. Genetic counseling is highly recommended if cancer is observed in multiple close relatives, occurs at a young age, involves rare cancer types, or if an individual has been diagnosed with more than one primary cancer. Even if genetic testing is not immediately required, the counseling process is vital for understanding personal risk and establishing appropriate screening and prevention strategies.
Single gene testing focuses on analyzing one specific gene to identify genetic changes; it is typically preferred when clinical symptoms strongly suggest a condition associated with a single gene to confirm or rule out a diagnosis. Genetic panels, on the other hand, allow for the simultaneous analysis of multiple genes that may cause similar symptoms or are linked to the same condition. Panels provide a more comprehensive and efficient genetic evaluation, especially when symptoms overlap with several conditions or when a disease can be caused by variants in different genes.
In line with international guidelines such as ESMO, ASCO, and NCCN, genetic testing is recommended starting from the initial diagnosis. Molecular testing performed at an early stage saves time in treatment planning and ensures earlier, more accurate access to targeted therapies.
Next-Generation Sequencing (NGS) is an advanced technology that allows for the simultaneous analysis of multiple genetic regions. In oncogenetics, NGS is utilized to detail the molecular structure of the tumor, identify genetic alterations driving cancer development, and determine biomarkers that guide treatment. Given the heterogeneous nature of tumors, NGS enables the identification of different subclones, allowing for personalized treatment planning through the evaluation of targeted therapy options, immunotherapy eligibility, and potential resistance mechanisms.
Amplicon-based panels are PCR-based and amplify only predefined regions of DNA so mutations at primer binding sites can result in missed targets and limited coverage. Conversely, hybrid capture utilizes specialized probes to capture targets, enabling comprehensive analysis of all exons and selected intronic regions. This approach ensures reliable target capture even in the presence of mutations and provides higher accuracy in detecting complex variants such as copy number variations and gene fusions. By reducing artifact risk in low-quality FFPE samples, it offers superior depth and breadth of coverage for oncological analysis.
Comprehensive Genomic Profiling is the simultaneous analysis of hundreds of clinically significant genes and biomarkers associated with cancer formation, tumor development, and treatment response, rather than testing a single gene. This approach provides a holistic view of the cancer's molecular landscape, enabling the evaluation of targeted therapy options, immunotherapy eligibility, and potential resistance mechanisms within a single test.
The HRD score is a measure of deficiency in the homologous recombination repair pathway, which is responsible for repairing DNA double-strand breaks in tumor cells. It is calculated by evaluating chromosomal irregularities that reflect genomic instability. HRD positivity is a critical biomarker for predicting the likelihood of response to targeted therapies, such as PARP inhibitors, and plays a decisive role in treatment planning
A reliable HRD assessment should not rely solely on BRCA1 and BRCA2 gene analysis; it must integrate key indicators of genomic instability, including LOH (loss of heterozygosity), TAI (telomeric allelic imbalance), and LST (large-scale state transitions). For clinically meaningful results, the test must feature adequate genomic coverage, appropriate sequencing depth, and validated analytical algorithms. Our FOCUS CGP test provides reliable HRD score calculation through its comprehensive analysis infrastructure encompassing all these parameters.
Liquid biopsy is a non-invasive genetic testing method based on the analysis of circulating tumor DNA (ctDNA) in the blood. It is preferred when tissue samples are insufficient, invasive procedures are to be avoided, or when monitoring treatment response and potential resistance development is necessary. This method enables the real-time assessment of dynamic tumor changes.
To ensure analytical accuracy, it is important to wait at least 15 days after chemotherapy to allow its effects on circulating tumor DNA (ctDNA) to diminish. Blood samples must be collected in specialized tubes and delivered to the laboratory within 4–5 days to maintain sample integrity.
Yes, Signatera MRD (Minimal Residual Disease) testing is used for this purpose. MRD refers to the detection of very small amounts of cancer cells that may remain in the body after surgery or treatment. Even when imaging results are normal, MRD positivity indicates a risk of recurrence and guides further treatment decisions. This test utilizes a tumor-informed approach: first, the surgical tissue is analyzed to create a patient-specific "molecular signature," and then, starting at least 10 days after surgery, blood samples are analyzed for this signature. After the initial setup, the follow-up process requires only blood samples, typically monitored every 3 to 6 months.
Genetic testing from tumor tissue analyzes genetic alterations specifically within cancer cells to identify targeted therapy options and resistance mechanisms. In contrast, blood-based genetic tests serve two purposes: Germline testing identifies hereditary risks inherited from family members, while Liquid Biopsy (ctDNA) analyzes circulating tumor DNA to reflect the current molecular status when tissue is inaccessible or for monitoring treatment progress.
Approximately 5–10% of all cancers develop due to inherited genetic alterations passed down through families. The vast majority of cancers are linked to somatic genetic changes that occur throughout life, influenced by environmental factors and lifestyle. Identifying hereditary cancers through genetic testing is crucial for both the patient's treatment and for establishing screening and risk management strategies for family members.
Genes are specific segments of DNA that act as instruction manuals, determining how cells function and the body operates. Genetic alterations (mutations) are variations or changes that occur in the sequence of this DNA. While some of these changes are harmless, others can influence disease development, increase cancer risk, or affect how a patient responds to treatment. Genetic alterations can be hereditary (germline), passed down through families, or acquired (somatic), occurring spontaneously during a person's lifetime.
Yes. The clinical significance of variants detected in genetic tests may be re-evaluated as scientific knowledge expands. A variant initially reported as "variant of uncertain significance" (VUS) may be reclassified as "benign" or "clinically significant" over time. Therefore, genetic test results may need to be reviewed in light of updated information.
NGS tests require adequate tumor content and DNA quantity for accurate results. Our laboratory assesses tissue sufficiency within the first 3–5 business days. If insufficient, the following alternatives are provided:
The technologies and analytical standards used in our center fully comply with international guidelines and global quality criteria.
Preimplantation genetic testing (PGT) is a procedure performed to identify genetic differences in embryos created through in vitro fertilization (IVF). PGT is performed before embryos are transferred to the uterus and aims to significantly reduce the likelihood of transferring an embryo carrying a specific genetic disease or certain chromosomal abnormalities.
Yes. There are three different types of PGT:
Preimplantation genetic testing for aneuploidies (PGT-A): Screens embryos for randomly occurring chromosomal abnormalities.
Preimplantation genetic testing for monogenic diseases (PGT-M): Applied in situations where there is an increased risk of a specific genetic disease.
Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR): Applied when one of the partners has a structural rearrangement such as a translocation or inversion.
Each cell in human embryos typically contains 23 pairs (total of 46) of chromosomes. Randomly occurring chromosomal abnormalities are common in embryos, and this condition is referred to as embryonic aneuploidy.
Individuals with a known single-gene disease, those with a family history of a monogenic disease, or those who have a child affected by a specific genetic disease.
It is used when one or both partners have a balanced structural chromosomal rearrangement. PGT-SR identifies embryos with normal or balanced chromosome structures.
As the mother's age advances, egg quality decreases, which increases the risk of errors during cell division, thereby raising the likelihood of aneuploidy.
PGT tests significantly reduce the risk for specific genetic diseases and chromosomal abnormalities. However, since it is not possible to cover every genetic condition, routine prenatal screenings during pregnancy also remain important.
Mosaicism is the presence of two or more different cell lines within an embryo. It means that some cells are normal, while others carry abnormalities.
It does not necessarily mean the baby has a genetic anomaly. It indicates a high risk for a specific disease and that further diagnostic tests are needed to confirm the condition.
No. Some genetic changes can arise spontaneously for the first time in the child (de novo mutations).
Yes. They can be diagnosed with prenatal diagnostic tests such as CVS, Amniocentesis, or Cordocentesis. Screening tests like NIPT can identify high-risk groups.
Yes, it is especially recommended for couples who are consanguineous or have a family history of genetic disease.
Yes. The risks of infertility, recurrent miscarriages, or having a child with a disability are significantly high.
PGT-A does not guarantee pregnancy; however, by helping select embryos with a normal chromosome count, it can increase the chance of implantation and reduce the risk of miscarriage.
When performed by experienced embryologists, the risk of damaging the embryo is less than 1%.
While embryo morphology (visual quality) and genetic health are related, they are not the same. An embryo that appears "very high quality" may still be genetically abnormal.
Karyotype Analysis and specific mutation screening if there is a known family disease. Additionally, Expanded Carrier Screening (ECS) or Whole Exome Sequencing (WES) is recommended.
It is a screening method based on the analysis of cell-free fetal DNA circulating in the mother's blood. This test is not diagnostic; high-risk results must be confirmed with invasive methods.
CVS (11-13 weeks), Amniocentesis (after 16 weeks), Cordocentesis (after 18 weeks). Recommended when there are abnormal screening results or suspicious findings.
In Turkey, sex selection without a medical indication is not legally possible.
Yes, it is a proactive approach to prevent the birth of an affected child by checking for hundreds of genetic diseases simultaneously.
Biopsy is usually performed on day 5 (at the blastocyst stage).
Yes, absolutely. A "Set-up" preparatory study must be performed beforehand to precisely identify the mutation.
Yes. If the existing embryos are found to be affected, they cannot be transferred, and a new treatment cycle is required.
It analyzes hundreds to thousands of genetic markers together to calculate a relative genetic risk score for common diseases such as diabetes, heart diseases, or certain cancers.
Type 1 and 2 Diabetes, Cardiovascular diseases, Breast/Prostate cancers, Hypertension, and High Cholesterol.
While the others provide a "yes/no" answer, PGT-P gives a "probability score" for diseases caused by the interaction of many genes.
No. It only selects the embryo with the lowest genetic risk. Lifestyle factors are still very important.
Those with a strong family history of chronic diseases or those with multiple healthy embryos available for transfer.
Generally no, the sample taken for PGT-A can be used.
These are diseases that affect a small number of individuals in the population (with an incidence of 1/2000) and are mostly genetic in origin. There are over 7,000 known types.
It is recommended in complex cases affecting multiple systems where a diagnosis cannot be made with standard tests, or when a rare genetic disease is suspected.
WGS analyzes the entire DNA. While WES only looks at protein-coding regions, WGS can also detect non-coding regions and large structural variations.
It is when a specific segment of DNA has a different number of copies than normal, as a result of deletion or duplication of that segment.
Yes, they can be detected with special bioinformatics methods. In some cases, confirmation with CMA (Chromosomal Microarray) may be necessary.
Couples planning pregnancy, those with a family history, and those who have had consanguineous marriages.
Diseases such as Phenylketonuria, Cystic Fibrosis, and SMA, where early diagnosis can prevent permanent damage.
While some come from both parents, defects in mitochondrial DNA are inherited exclusively from the mother.
Karyotype and microarray analysis are recommended for parents, and CMA analysis for miscarriage tissue.
In children showing unexplained cognitive impairment, developmental delay, or autism symptoms, and in women with a history of early menopause.
Strongly recommended for all couples planning pregnancy.
It is associated with the DMD gene on the X chromosome and primarily affects male children.
For recessive diseases, it is generally 25% for each pregnancy. It may vary in other models.
If symptoms clearly indicate a very specific disease group (e.g., only epilepsy), panels provide faster and more focused results.
Generally no. Results should always be interpreted in conjunction with clinical symptoms and family history.
It is the re-screening of old data with current scientific information. It is recommended for patients who have not received a diagnosis.
Yes, if the clinical picture changes, it may indicate a different disease, and reanalysis may be necessary.
By undergoing genetic carrier screening (blood or saliva sample).
Many are manageable. Special options such as enzyme therapy, gene therapy, or smart drugs are developing.
Yes, the type and location of the mutation can alter the course of the disease from mild to severe.
Yes, it can detect genetic defects in metabolic pathways with high accuracy.
Yes, it is a hereditary disease associated with changes in the MEFV gene.
Diagnosis is clinical, but HLA tests can be used in some cases to support the evaluation.
We have agreements with Aras Cargo and Yurtiçi Cargo. You can send your samples after we share the shipping codes with you. The shipping cost is covered by our institution.
Samples must be sent together with the test request and patient consent forms completely filled out. For blood and prenatal samples, they must be shipped with ice packs while maintaining the cold chain. Prenatal samples must reach the laboratory within 24 hours at the latest. For blood samples, care should be taken to ensure the samples are not clotted.
Failure to collect requested samples in appropriate tubes and materials.
A repeat sample may be requested when the sample arrives clotted, for samples that are insufficient for the study, for samples from which sufficient data cannot be obtained, and for samples sent in the wrong tube.
For our patients, test results are automatically sent to the registered email addresses in the system. For our contracted institutions, they can access test results by entering their username and password information in the E-Result section on our website.
The delivery of test results varies depending on the contractual agreement between our center and the referring institution or physician:
Contracted Institutions and Physicians: For cases within this scope, test results are delivered simultaneously to both the patient and the respective physician.
Non-Contracted Cases: In instances where there is no active agreement between your physician or institution and our center, test results are shared exclusively with the patient via the contact information (phone or email) registered in our system.
The samples to be sent must be accompanied by the Test Requisition Form and Patient Informed Consent Form , which must be filled out according to the test to be performed.
Yes. Temperature is continuously monitored throughout sample transportation using data loggers placed inside the transport containers.
For PGT samples, PBS tubes are provided by our laboratory. For blood samples, institutions may use their own appropriate collection tubes. However, for liquid biopsy and MRD tests, the specialized tubes provided by our laboratory must be used.
We provide support for both incoming and outgoing international sample shipments, including customs procedures. Please contact us for shipping fees and further details.
In cases where the sample is determined to be insufficient or inappropriate, the patient or the relevant institution is contacted and a new sample is requested (prenatal samples are excluded from this process, as repeat sampling is not possible for these cases). No additional fee is charged for the newly requested samples in such situations.
In prenatal testing processes, refunds are not provided in cases where reporting is not possible due to insufficient cell quality, inadequate cell count for analysis, or Low Fetal Fraction (LFF).
The cancellation and modification of test requests are managed based on the current progress of the laboratory workflow:
Cancellation and Refund Policy: Test cancellation is only possible if the process is still in the initial or early stages of laboratory processing. Regarding the refund process, the current status of the test is reviewed to calculate the expenses incurred up to that point. Any remaining balance after deducting these costs will be refunded to the patient. Please note that once advanced analysis stages have begun or the test has been completed, a refund may no longer be possible.
Test Modification: A test modification can be performed provided that the existing sample is suitable and sufficient for the newly requested test. If the current sample does not meet the requirements for the new test, a new sample collection will be required.
You can contact our laboratory to obtain the latest information regarding the status of your test.
For urgent cases within Istanbul, we provide a courier service to ensure the fastest possible delivery of samples to our laboratory. For urgent samples from outside Istanbul, shipments are arranged through our contracted courier companies. Once the sample is received, the laboratory is informed of its priority status and the analysis is initiated accordingly.
Patient Informed Consent Forms can be completed digitally. An English version of the consent form is also available for international patients.
Samples and extracted genetic materials are stored for varying periods depending on the specimen type, in accordance with international accreditation standards and applicable legal regulations. Your samples are stored under appropriate conditions for additional tests or clinical requirements that may be needed in the future. To get detailed information about our specific retention periods for each material type (blood, prenatal samples, tissue, etc.), you can contact our laboratory.
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The content provided on this site is intended for informational purposes only and is not a substitute for professional medical advice or diagnosis. Always seek the advice of a qualified healthcare provider for any medical evaluation, diagnosis, or treatment.
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