Home / Services
Rare diseases encompass a diverse group of less common conditions, predominantly of genetic origin, often affecting children. Despite their rarity, millions of people worldwide, including in Turkey, live with these conditions. Due to the unique and varied symptoms of rare diseases and limited awareness, patients frequently face challenges in obtaining timely and accurate diagnoses. In fact, half of individuals with rare diseases struggle to receive definitive diagnoses, sometimes enduring years of uncertainty or misdiagnosis before finding appropriate medical care.
Genetic testing helps identify specific genetic mutations underlying rare diseases, guiding healthcare providers towards tailored treatment options and potential participation in clinical trials.
By understanding the genetic basis of a rare disease, healthcare providers can anticipate disease progression and identify symptoms that may arise at different stages. This foresight enables proactive management and early intervention strategies.
Genetic testing not only aids in diagnosing the affected individual but also identifies family members at risk of inheriting the genetic mutation, facilitating targeted screening and preventive measures.
For individuals planning pregnancies, genetic testing provides crucial information about the risk of passing on rare diseases to future generations, empowering informed family planning decisions.
Whole Exome Sequencing analyzes the protein-coding regions (exons) of approximately 20,000 genes in the human genome. Since most genetic diseases result from mutations in these regions, WES offers a comprehensive approach to identifying disease-causing genetic variations. It provides rapid access to detailed genetic information, significantly shortening the diagnostic journey for patients.
Microarray Analysis examines all 23 pairs of chromosomes to detect genetic variations such as deletions, duplications, and changes in DNA copy numbers. This method is crucial for identifying structural variations in chromosomes that may lead to genetic diseases. By analyzing the entire genome simultaneously, Microarray Analysis offers insights into complex genetic conditions associated with rare diseases.
At Sapiens Genetics, we specialize in genetic testing for rare diseases, offering advanced diagnostic solutions that empower patients and healthcare providers alike. Our commitment is to provide timely and accurate genetic diagnoses, ensuring that individuals with rare diseases receive the necessary care and support. Contact us today to learn more about our genetic testing services and how we can assist you in navigating the complexities of rare diseases.
For more information or to schedule a genetic counseling appointment, please contact us.
Sapiens aims to bridge the gap between genetic research and practical healthcare applications. By providing accurate and reliable genetic information, the company empowers individuals and healthcare professionals to take proactive steps in managing health and preventing disease.
