Medical Genetics and Pathology

What is Medical Genetics?

Medical genetics is a branch of medicine that deals with the diagnosis, treatment and prevention of genetic diseases. Medical geneticists investigate the causes of hereditary diseases, perform genetic tests and provide genetic counseling services. This field focuses on the analysis of genetic material (DNA, RNA) and understanding the mechanisms of hereditary diseases.

Scope of Medical Genetics

• Hereditary Diseases:
  • Single Gene Diseases: Diseases resulting from the mutation of a single gene, such as cystic fibrosis, sickle cell anemia, Huntington’s disease.
  • Multifactorial Diseases: Diseases resulting from the influence of more than one gene and environmental factors, such as diabetes, heart disease, cancer.
  • Chromosomal Disorders: Diseases associated with abnormalities in chromosome number or structure, such as Down syndrome, Turner syndrome, Klinefelter syndrome.
• Genetic Tests:
  • Prenatal Diagnosis: Prenatal diagnosis of genetic diseases using methods such as amniocentesis, chorionic villus sampling (CVS) and non-invasive prenatal testing (NIPT).
  • Carrier Screening: Tests performed to determine the carrier status of prospective parents for genetic diseases.
  • Preimplantation Genetic Diagnosis (PGD): Genetic analysis of embryos during in vitro fertilization treatment.
  • Newborn Screening: Tests performed for early diagnosis of genetic diseases in babies after birth.
  • Clinical Genetic Tests: Tests performed for the diagnosis of genetic diseases in patients (karyotype analysis, molecular genetic tests, array CGH, etc.).
• Genetic Counseling: Providing information and support to patients and their families about genetic diseases, risk factors, test results and treatment options.
• Pharmacogenetics: Studying the effects of drugs according to genetic structure and creating individual treatment plans.

Importance of Medical Genetics

Medical genetics plays an important role in the diagnosis and treatment of hereditary diseases. Genetic tests enable early diagnosis of diseases and the creation of appropriate treatment plans. In addition, genetic counseling services facilitate the understanding and management of genetic diseases for patients and their families.

What is Pathology?

Pathology is a branch of medicine that examines the causes, developmental processes and effects of diseases. Pathologists diagnose diseases by examining biopsy, surgical specimens, autopsy and cytology materials under a microscope. Pathology covers the molecular, microscopic and macroscopic examination of diseases.

Scope of Pathology

• Histopathology: Examination of tissue samples under a microscope. Diagnosis of various diseases such as cancer, inflammatory diseases, degenerative diseases.
• Cytopathology: Examination of cell samples. Diagnosis of diseases at the cellular level with methods such as Pap smear and fine needle aspiration biopsy (FNA).
• Molecular Pathology: Analysis of DNA, RNA and proteins. Diagnosis of diseases at the molecular level with techniques such as molecular genetic tests, immunohistochemistry, in situ hybridization.
• Hematopathology: Examination of blood and bone marrow samples. Diagnosis of leukemia, lymphoma and other hematological diseases.
• Forensic Pathology: Determination of causes of death and examination of forensic cases.
• Neuropathology: Diagnosis of central and peripheral nervous system diseases.
• Skin Pathology: Microscopic examination and diagnosis of skin diseases.

Importance of Pathology

Pathology plays a critical role in the diagnosis of diseases. Pathologists help patients develop appropriate treatment plans by making accurate diagnoses. Pathological examinations are vital for the early diagnosis and treatment management of many diseases, especially cancer.

Medical Genetics and Pathology with Asumed Health Care

Asumed Health Care provides the best service in the field of medical genetics and pathology by collaborating with leading healthcare institutions in Turkey. The main services we offer to our patients are as follows:

Medical Genetics Services:

• Genetic Tests and Diagnosis: We offer comprehensive genetic testing and diagnostic services to our patients. We perform a wide range of genetic tests, including prenatal diagnosis, carrier screening, clinical genetic tests and newborn screenings.
• Genetic Counseling: We provide information and support to our patients and their families about genetic diseases, risk factors and test results.
• Pharmacogenetic Counseling: We evaluate the effects of drugs according to genetic structure and create individual treatment plans.

Pathology Services:

• Histopathology and Cytopathology: Microscopic examination of tissue and cell samples and diagnosis of diseases.
• Molecular Pathology: Molecular diagnosis of diseases with DNA, RNA and protein analyses.
• Hematopathology: Examination of blood and bone marrow samples and diagnosis of hematological diseases.
• Forensic Pathology: Determination of causes of death and examination of forensic cases.
• Skin Pathology: Microscopic examination and diagnosis of skin diseases.