Medical Genetics

The Key to Understanding Your Health Is Medical Genetics

The Medical Genetics Department offers complete and state-of-the-art genetic services to assist people and families in understanding and managing their health. Our team is committed to giving patients with genetic diseases accurate diagnoses, risk assessments, and individualized treatment plans using the most recent technologies and trained specialists.

The science of medical genetics combines medicine, genetics, and biology to comprehend, diagnose, and treat to comprehend, diagnose, and treat genetic disorders and inherited diseases. Medical geneticists are essential for diagnosing genetic disorders and explaining the implications of a diagnosis to patients and their families.


Pharmacogenetics is used to understand how genetic material responds to specific drugs. This information can help patients receive personalized treatments. Genetic differences between individuals largely influence the effects of a drug and its effectiveness on a particular disease. Each individual has a unique pharmacogenetic profile. All medicines must reach the therapeutic plasma level after being taken into the body to complete their therapeutic mechanism.

Suppose the drug's dose is too low. If the dose range is insufficient, the metabolic elimination is rapid, or the bioavailability is low, the drug may fail to reach the therapeutic plasma level, leading to an inadequate response to treatment. Conversely, if the drug's dose is too high, the dose range is too narrow, or the metabolic elimination is prolonged, it may cause various adverse effects on the individual.

Targeted Chemotherapy

Personalized cancer treatment focuses on identifying individual variations in cancer biology. By elucidating these differences at the molecular level, the aim is to design more effective treatments.

To design personalized cancer treatment, an analysis of cancer pathways is necessary. This is achieved through genetic testing, referred to as comprehensive genomic profiling or comprehensive genomic mapping. This can be likened to using a navigation system where all the roads and traffic at each point are displayed, allowing you to choose a route tailored to your needs.


Our medical genetics division provides a vast array of services, such as:

Genetic Counseling

One method for assisting people and families in understanding the effects of genetic abnormalities, illnesses, or diseases is genetic counseling. Medical geneticists who have received specialized training in the field carry out this service to inform, support, and direct anyone at risk for a genetic disorder.

A geneticist will review pertinent test results and take a thorough medical and family history, discussing the genetic implications of a problem during a genetic counseling session. The medical geneticist will also review the possibilities for genetic testing, the advantages and disadvantages of testing, and the potential results of the test.

Genetic counseling aims to give patients the information they need to make decisions about their and their family's health. It can assist people in planning for potential health issues, understanding their risk for certain conditions, and making wise decisions regarding their future health and family planning.

Genetic counseling may benefit individuals and families needing emotional support while making challenging health decisions. The medical geneticist can assist patients in coping with their diagnosis and making educated decisions about their health by providing information, resources, and connections to support groups or other services.

Genetic Testing

Genetic testing examines DNA or genetic material to determine if any particular genetic variants could lead to or raise the risk of developing a health problem. There are various kinds of genetic tests, such as:

Diagnostic Testing

A genetic diagnostic test seeks to pinpoint the precise origin of a disease or medical condition. It is utilized to identify any hereditary conditions a person may have and the nature of those conditions. The outcomes of diagnostic testing can be used to inform medical decision-making and treatment planning and to support other family members' risk assessment and family planning.

There are various kinds of diagnostic tests, such as:

  • DNA sequencing: DNA sequencing is a procedure that establishes the precise arrangement of a person's DNA nucleotides. This kind of testing can find genetic mutations or changes that may be the cause of a genetic disorder.
  • Chromosome analysis, sometimes called karyotyping, involves examining a person's chromosomes to determine their size, shape, and number. This type of testing can help find chromosome abnormalities that may be related to a hereditary disorder.
  • Gene expression analysis: This method examines the degree of gene activity within an individual's cells. It can help determine whether a gene is operating correctly or has undergone an alteration that may result in a genetic disorder.
  • Biopsy: During a biopsy, a small tissue sample is taken from the body and sent to a lab for examination. The biopsy sample can be subjected to genetic testing to determine the precise origin of a medical issue.

Medical genetics relies heavily on diagnostic testing, and the outcomes of these tests can significantly impact the people and families affected by genetic diseases. Our medical genetics section at Medicana Health Group offers cutting-edge diagnostic testing services to people and families so they can better understand the underlying reasons for their medical disorders and make decisions about their health.

Carrier Testing

Genetic testing, known as "carrier testing," can help identify whether a person possesses the gene for a specific inherited ailment. People who are considering having children and want to know if they are carriers of a particular disease can get this kind of testing done if they have a family history of a genetic disorder.

The goal of carrier testing is to find people who have a faulty gene linked to a specific condition but do not show any symptoms of the disorder. By identifying carriers, medical practitioners can offer advice and strategies for reducing the chance of passing the illness on to their offspring.

Carrier testing comes in various forms, such as carrier screening tests, presymptomatic testing, and predictive testing. To detect carriers of particular genetic illnesses, carrier screening tests are typically administered to large populations of individuals. Presymptomatic testing is done on those with a family history of a specific disorder who may be more likely to inherit the gene. People at an elevated risk for a particular ailment who wish to know if they have inherited the gene undergo predictive testing.

Carrier testing is a crucial tool for assisting families in managing the risk of passing on genetic illnesses. It also offers helpful information for those more susceptible to certain diseases and couples considering raising a family. The medical genetics division at Medicana Health Group can give you additional details and address any inquiries you may have if you're interested in carrier testing.

Predictive Testing

Genetic tests that predict a person's future propensity to develop a specific genetic condition are called predictive testing. These tests examine their genetic composition to determine if a person has a gene mutation or changes in a particular gene known to cause a specific condition.

Presymptomatic and predisposition testing are the two basic types of predictive testing. People who have a family history of a genetic illness but have not yet shown any symptoms are subjected to presymptomatic testing. This kind of testing aims to determine if a person carries the genetic mutation and will eventually acquire the disorder. Individuals who have a family history of a specific genetic illness but have not yet reached the age at which the symptoms are likely to manifest are subjected to predisposition testing. This kind of testing aims to determine if a person carries the genetic mutation and is more likely to develop the condition in the future.

Predictive testing can have substantial psychological and social repercussions. Thus, anyone considering this kind of testing should seek genetic counseling to review the advantages, restrictions, and potential results of the test. The outcomes of predictive testing may also have an impact on decisions for future medical procedures and family planning.

Prenatal Testing

Prenatal testing is the process of using genetic tests to identify chromosomal or genetic problems in a fetus while it is still in the womb. These tests can aid in the early detection of genetic disorders like Down syndrome, spina bifida, or other congenital disabilities so that parents can make educated decisions regarding the pregnancy and the care of their unborn child.

Prenatal testing can come in a variety of forms, including:

  • Chorionic villus sampling (CVS): This test, carried out between 10 and 12 weeks of pregnancy, entails collecting a sample of the placenta to examine the fetal DNA.
  • Amniocentesis: This test is carried out later in pregnancy, typically between 15-20 weeks, and requires removing a sample of amniotic fluid to analyze fetal DNA.
  • Non-invasive prenatal testing (NIPT): This test analyzes fetal DNA using a sample of the mother's blood and can identify some genetic disorders as early as ten weeks into the pregnancy.
  • Ultrasound: The fetus is imaged using high-frequency sound waves during this examination, which can also be used to identify some physical problems.

Prenatal testing can give expectant parents helpful information, but it's crucial to realize that these tests are not 100% accurate and may not catch all genetic abnormalities. Additionally, several of these tests have a very slight risk of side effects, such as a probable miscarriage. Expectant parents should consult with their doctor about the potential advantages and disadvantages of prenatal testing before deciding.

Newborn Screening

A battery of tests called newborn screening is administered to newborns to find illnesses or genetic diseases that might not be apparent at birth. The results of these tests, which are often carried out within the first few days of life, are used to identify and treat diseases that may lead to severe health issues. Phenylketonuria (PKU), congenital hypothyroidism, and sickle cell anemia are a few of the frequent disorders that can be found through newborn screening.

A small blood sample from the newborn's heel is routinely taken as part of newborn screening, and the sample is subsequently sent to a lab for analysis. In some circumstances, a hearing test or a physical examination may also be conducted.

The goal of newborn screening is to find diseases as soon as possible so they can be treated or managed. This can help the affected youngsters fare better and prevent significant health issues from emerging.

It is crucial to remember that newborn screening is not a diagnostic procedure, and positive results may not always imply that the kid has the affliction under consideration. However, the outcomes may enable early intervention and give families and healthcare professionals helpful information if necessary.

Preimplantation Testing

Before embryos are placed in the uterus during in vitro fertilization, they undergo a type of genetic testing known as preimplantation testing (IVF). The goal of this testing is to identify embryos with chromosomal or genetic defects so that clinicians may only choose the healthy ones for implantation. This testing improves the likelihood of a successful pregnancy while lowering the danger of specific genetic problems.

Preimplantation genetic diagnosis (PGD) and preimplantation genetic screening are the two basic preimplantation testing (PGS) types.

  • Preimplantation Genetic Diagnosis (PGD)is a kind of genetic testing used to find particular genetic diseases in embryos. PGD is typically conducted on couples who are at a high risk of transferring a congenital disease to their future children, such as those who have a family history of a specific genetic disorder or who have already had children who have a genetic disorder.
  • To check for chromosomal abnormalities in embryos, preimplantation genetic screening, or PGS, is a sort of genetic testing. Given that the chance of chromosomal abnormalities rises with advancing age, PGS is often conducted on couples who have undergone numerous unsuccessful IVF cycles, have experienced previous miscarriages, or are older.
    PGD and PGS both entail taking a single cell from an embryo and examining it for chromosomal or genetic abnormalities. In doing so, medical professionals can choose the healthiest embryos for implantation, enhancing the likelihood of a successful pregnancy and a healthy child.

PGD and PGS both entail taking a single cell from an embryo and examining it for chromosomal or genetic abnormalities. In doing so, medical professionals can choose the healthiest embryos for implantation, enhancing the likelihood of a successful pregnancy and a healthy child.

Cancer Genetic Testing

A specific kind of genetic test called cancer genetic testing is performed to find genetic changes that could make a person more likely to have cancer. It is carried out on a DNA sample of the subject, typically taken from a biopsy or blood sample. The outcomes of this test can offer crucial information that can be used to estimate a person's likelihood of developing cancer and to help make decisions regarding possible preventative actions and treatments.

A person's risk for hereditary malignancies, diseases brought on by inherited genetic alterations, can be assessed via cancer genetic testing. Breast and ovarian cancer, colon cancer, and pancreatic cancer are a few examples of hereditary cancers. This kind of testing can assist in identifying people whose genetic abnormalities in genes like BRCA1 and BRCA2 enhance their chance of contracting cancer.

Cancer genetic testing is also available for those who have previously received a cancer diagnosis. Tumor sequencing is a type of test that can assist in identifying the precise congenital abnormalities fueling the development of the malignancy. This information can suggest the best therapies for a patient and help with treatment decisions.

It is significant to remember that other factors, besides genetic testing, affect a person's likelihood of getting cancer. Age, way of life, and exposure to the environment are among other essential aspects. A medical geneticist or a genetic counselor should be consulted by anyone thinking about cancer genetic testing to review the test's potential advantages and disadvantages and to assist them in deciding whether it is appropriate for their particular situation.

You should obtain the counsel of a medical geneticist or other healthcare professional before performing genetic testing because the results can substantially impact a person's health and the future of their family.

Diagnostic Testing

Diagnostic testing is a category of genetic testing that identifies particular genetic disorders or diseases. It is carried out to determine if a person has a genetic predisposition to a specific ailment when exhibiting symptoms or having a family history.

Numerous procedures, such as blood tests, tissue samples, and other laboratory techniques, can be used to conduct diagnostic testing. The type of genetic disorder being investigated, the patient's medical background and present-day symptoms will determine the precise testing procedure.

After a sample is taken, it is examined in a lab to see if any genetic alterations or mutations connected to the tested condition are present. The test's outcomes can aid in diagnosing the ailment, choosing the most effective course of treatment, and gathering crucial data for family planning.

It is crucial to remember that diagnostic testing might occasionally produce false-negative or false-positive results. The ethical, social, and psychological ramifications of genetic testing should also be considered, which is why genetic counseling is frequently advised before and after a diagnostic test.


Medicana Health Group's medical genetics divisions provide treatment options for genetic diseases. Each patient will have a unique treatment strategy based on their genetic condition, medical needs, and medical history. Medical genetics departments may offer a variety of treatments, such as:

  • Medications: Some medications, such as painkillers for conditions that cause joint pain or anti-inflammatory treatments for conditions that cause inflammation, may be used to manage the symptoms of hereditary conditions.
  • Surgery:Some hereditary disorders may necessitate surgical intervention to rectify physical defects or remove damaged tissues or organs.
  • Gene therapy: This cutting-edge area of medicine involves replacing defective genes that result in genetic illnesses with healthy genes.
  • Physical Therapy: Physical therapy is helpful for various inherited diseases, particularly those impairing mobility, such as muscular dystrophy.
  • Genetic counseling: Patients and their families may benefit from genetic counseling to better understand their genetic condition, as well as the advantages, disadvantages, and treatment options available based on their genetic makeup.

It's crucial to remember that not all genetic disorders can be treated, and others might not have a known treatment. However, Medicana Health Group's medical genetics departments are committed to offering the finest care possible to all of their patients, and they will work carefully with each patient and their family to develop a customized treatment plan that considers their unique requirements and objectives.


A key component of medical genetics is research, essential for expanding our knowledge of genetic illnesses and creating new treatments. A group of highly qualified and experienced geneticists and researchers collaborate to conduct cutting-edge research at Medicana Health Group's medical genetics divisions.

At Medicana Health Group, some of the fields of medical genetics study are:

  • Determination of novel genetic mutations and illnesses: Our researchers are committed to identifying novel genetic mutations and disorders to further our knowledge of their underlying causes and available treatments.
  • Development of new diagnostic tests: Research in medical genetics also concentrates on creating unique, more precise diagnostic tests for genetic illnesses to increase diagnostic efficiency.
  • Creation of novel therapies: Our researchers are working to create novel, more efficient treatments for genetic diseases, such as gene therapy.
  • Genetic risk factor research: To help identify those at higher risk and create individualized prevention and treatment strategies, our experts are researching genetic risk factors for various illnesses, including cancer and cardiovascular disease.
  • Personalized medicine: Research in medical genetics also concentrates on harnessing genetic data to customize treatment and care to each patient's particular needs, ensuring that they receive the best care possible.

Why Choose Medicana for Medical Genetics?

  • Expertise: Our team of medical geneticists has years of experience and extensive training in the subject. They are well-versed in genetic disorders and offer the most recent genetic tests and counseling.
  • Comprehensive care: Our medical genetics department offers a full spectrum of services, from genetic testing and counseling to diagnostic evaluation and treatment. We collaborate with patients and their families to provide a comprehensive and individualized approach to care.
  • Advanced technology:Our genetic testing facility is outfitted with cutting-edge hardware and sophisticated genetic testing procedures. Our goal is to deliver the most precise and trustworthy results we can.

For more information about our medical genetics services or to make an appointment, contact us at +90 850 4601010 or [email protected]. Let us work with you to create a specific treatment plan and assist you and your family in comprehending the effects of genetic disorders.

Created at 11.10.2023 06:55
Updated at 24.05.2024 05:38
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