Genetic Testing
Genetic testing is a powerful tool in modern healthcare, analysing DNA to identify changes in genes that may lead to hereditary conditions or impact health. It plays a crucial role in early disease detection, personalized medicine, and informed family planning. By understanding your genetic makeup through genetic testing, you can take proactive steps in managing your health and well-being. Ideal for individuals with a family history of genetic disorders, those seeking personalized treatment options, or anyone interested in preventive healthcare, genetic testing offers valuable insights for a healthier future.
Hereditary Screening
What is Hereditary Screening?
Hereditary screening, also known as genetic screening, is a medical test that identifies changes in chromosomes, genes, or proteins to detect a predisposition to inherited conditions. It can reveal whether a person carries gene mutations that could lead to genetic disorders or be passed on to future generations. These tests are typically performed using a blood sample, saliva, or other tissue types, with results that can inform health care decisions and preventive measures.
How Will It Help?
Hereditary screening offers several significant benefits:
Early Detection and Prevention: Identifying genetic mutations early can help in taking preventive steps or initiating early treatment for conditions like cancer, cardiovascular diseases, or metabolic disorders. This proactive approach can significantly improve the quality of life and reduce the risk of developing severe symptoms.
Informed Family Planning: For individuals or couples planning to have children, hereditary screening can provide critical information about the likelihood of passing on genetic conditions. This knowledge enables them to make informed decisions about family planning and explore options like preimplantation genetic diagnosis (PGD) or assisted reproductive technologies (ART).
Personalized Health Care: Understanding one’s genetic makeup can lead to personalized medical care. Doctors can tailor treatment plans, dietary recommendations, and lifestyle changes based on an individual’s genetic predisposition, leading to more effective and targeted interventions.
Reduced Anxiety: For those with a family history of genetic disorders, hereditary screening can provide peace of mind. Knowing the risks allows individuals to take control of their health, whether the results show a low or high likelihood of developing a condition.
Who Should Consider Hereditary Screening?
Hereditary screening is beneficial for a wide range of individuals, particularly:
Individuals with a Family History of Genetic Disorders: If there’s a history of conditions like cancer, heart disease, diabetes, or other inherited disorders, hereditary screening can help assess the risk and guide preventive measures.
Couples Planning to Have Children: Screening is crucial for couples who want to understand the genetic risks they may pass on to their children. This is especially important for those with known hereditary conditions in their family.
Pregnant Women: Expectant mothers may undergo prenatal screening to detect any genetic conditions in the developing fetus. This can help in making informed decisions about pregnancy and preparing for any necessary medical care after birth.
Individuals with Unexplained Health Issues: Sometimes, symptoms and health conditions are difficult to diagnose through standard tests. Hereditary screening can uncover genetic causes and provide clarity, leading to more accurate diagnoses and appropriate treatment plans.
People Interested in Proactive Health Management: Even without a known family history, those who want to take a proactive approach to their health can benefit from hereditary screening. It helps in understanding potential risks and enables early interventions to maintain overall well-being.
What type of genetic test best fits you? To know more book an appointment with our genetic counselors!
Clinical Panels
Multiple genes are associated with a particular genetic disease sometimes. For this the analysis should be based on the combination of the genes to know more about the complex gene disease associations. The panel testing offered by Gene Aura covers a wide range of clinical areas that can be tailor- made to provide maximum flexibility with the most efficient pricing. These tests include complete genome sequencing, exon- level variants and single gene deletion/ duplication analysis. The appropriate intervention in the apt time is very crucial in the case of genetic disorders. This can improve prognosis. The at- risk members of the family can also be identified to prevent sudden death.
What Are Clinical Panels of Genetic Testing?
Clinical panels of genetic testing are specialized tests that examine multiple genes simultaneously to diagnose or assess the risk for specific medical conditions. Unlike single-gene tests, clinical panels provide a broader picture by analyzing a group of genes related to a particular disease or health condition. These panels are tailored to specific medical needs, such as cancer, cardiovascular diseases, neurological disorders, or metabolic conditions, offering targeted insights for clinical care.
How Will It Help?
Clinical panels of genetic testing offer several key advantages:
Accurate Diagnosis: By testing multiple genes at once, clinical panels increase the likelihood of identifying the genetic basis of a disease. This is particularly important for conditions that can be caused by mutations in several different genes. An accurate diagnosis allows for appropriate medical interventions and management strategies.
Personalized Treatment Plans: The results from clinical panels can guide the development of personalized treatment plans. For example, in cancer care, knowing the specific genetic mutations involved can help oncologists choose targeted therapies that are more likely to be effective for the patient.
Risk Assessment and Prevention: Clinical panels can also assess the risk of developing certain diseases, even before symptoms appear. For individuals with a family history of a particular condition, these panels can help in early detection and the implementation of preventive measures, such as lifestyle changes or more frequent monitoring.
Informed Decision-Making: For patients and healthcare providers, clinical panels provide valuable information that can influence medical decisions. Whether it’s deciding on surgery, choosing a medication, or considering family planning options, having detailed genetic information allows for more informed choices.
Comprehensive Insights: Unlike single-gene tests, clinical panels provide a more comprehensive analysis by examining multiple genes associated with a condition. This broader approach can uncover genetic factors that might be missed with narrower testing, leading to a more complete understanding of the patient’s health.
Who Should Consider Clinical Panels of Genetic Testing?
Clinical panels are particularly beneficial for the following groups:
Patients with Complex or Undiagnosed Conditions: If a patient has symptoms that don’t match a single known condition or if previous tests have been inconclusive, clinical panels can provide a more detailed analysis that may lead to a diagnosis.
Individuals with a Family History of Genetic Disorders: For those with a known family history of genetic diseases, clinical panels can assess the likelihood of developing the condition or passing it on to future generations. This is especially relevant for conditions with multiple genetic contributors, such as certain types of cancer or heart disease.
Cancer Patients: Clinical panels are often used in oncology to identify mutations in cancer-related genes. This information is critical for choosing the most effective treatments, such as targeted therapies or immunotherapies, and for understanding the prognosis.
Patients Undergoing Cardiovascular Evaluation: For those with unexplained heart conditions, clinical panels can uncover genetic causes that might not be detected through standard cardiovascular tests. This can lead to more precise treatment and better management of heart health.
Neurological and Metabolic Disorder Patients: Clinical panels are also useful for diagnosing and managing neurological disorders (like epilepsy or neurodegenerative diseases) and metabolic conditions (such as inherited enzyme deficiencies), where multiple genes may be involved.
Clinical panels of genetic testing are a powerful tool in the field of precision medicine, offering detailed insights into the genetic factors that contribute to a wide range of medical conditions. By providing accurate diagnoses, informing personalized treatment plans, and enabling proactive health management, these panels empower both patients and healthcare providers to make better-informed decisions. If you are dealing with a complex medical condition, have a family history of a genetic disorder, or simply want a comprehensive understanding of your genetic health, clinical panels could be a valuable resource.
Gene Sequencing
What is Gene Sequencing?
Gene sequencing is the process of determining the precise order of nucleotides within a DNA molecule. These nucleotides—adenine (A), thymine (T), cytosine (C), and guanine (G)—are the building blocks of DNA, and their sequence encodes the genetic information that determines how organisms develop and function. By reading this sequence, scientists and doctors can gain insights into an individual’s genetic makeup, identifying mutations or variations that may be associated with diseases or traits.
How Will It Help?
Gene sequencing has revolutionized medicine and biology, offering a range of benefits:
-
Precise Diagnosis: Gene sequencing allows for the identification of specific genetic mutations that cause or contribute to diseases. For patients with undiagnosed or rare conditions, this can lead to a definitive diagnosis when other tests have failed, guiding more accurate and effective treatment.
-
Personalized Medicine: Understanding the exact genetic variations in an individual can lead to personalized treatment plans. In cancer care, for example, sequencing a tumor’s DNA can reveal mutations that are driving its growth, helping doctors choose targeted therapies that will be most effective for that specific genetic profile.
-
Predictive and Preventive Health Care: Gene sequencing can identify genetic predispositions to certain diseases before symptoms appear. This allows for early interventions, lifestyle adjustments, or more frequent monitoring, which can prevent or delay the onset of disease.
-
Family Planning and Reproductive Health: For couples considering having children, gene sequencing can reveal potential risks of passing on genetic disorders. This information can inform family planning decisions and the use of reproductive technologies to minimize risks.
-
Research and Discovery: Beyond individual health, gene sequencing is a critical tool in research. It enables scientists to explore the genetic basis of diseases, discover new drug targets, and understand evolutionary biology. This research contributes to the development of new therapies and advances in medical science.
Who Should Consider Gene Sequencing?
Gene sequencing is valuable for a variety of people, including:
-
Patients with Unexplained Symptoms or Rare Diseases: For those with complex, unexplained medical conditions, gene sequencing can uncover genetic causes that might not be evident through standard diagnostic tests.
-
Individuals with a Family History of Genetic Disorders: If there’s a history of inherited conditions in the family, gene sequencing can help determine whether an individual carries the genetic mutations responsible, enabling early detection and management.
-
Cancer Patients: Sequencing the genes of a tumor can provide critical information for choosing the most effective treatments. It can also help predict how the cancer will respond to certain therapies, improving treatment outcomes.
-
Expectant Parents or Those Planning a Family: Gene sequencing can identify genetic risks in parents that might be passed on to their children. This is particularly important for those with a known history of genetic disorders, as it allows for informed reproductive decisions.
-
Health-Conscious Individuals: Even without a family history of genetic disorders, people who are proactive about their health can benefit from gene sequencing. It provides insights into potential health risks and helps in taking preventive measures to maintain well-being.
Gene sequencing is a powerful tool that decodes the genetic information underlying our health and traits. Whether for diagnosing rare diseases, guiding personalized treatment, predicting future health risks, or informing family planning decisions, gene sequencing offers unparalleled insights into our biology. If you are facing a complex medical issue, have a family history of genetic disorders, or want to take a proactive approach to your health, gene sequencing could provide the information you need to make informed, impactful decisions.
Types of Genetic Tests
Whole Exome Sequencing(WES): genome sequencing technique for the protein-coding regions of the entire genome. WES is one of the widely used Next-generation sequencing methods.
Karyotyping /FISH: To analyse the chromosomal abnormalities these techniques are used. The disorders can be identified based on the number and arrangement of the chromosomes.
Microarray: Microarray is used to identify a small chromosomal deletion, duplication, or addition of an entire chromosome and/or large parts of multiple chromosomes being the same
NGS/ Sanger: Entire genome or exome sequencing techniques used either as a primary technique or as an confirmationtechnique to identify any identified variant.
Polymerase chain reaction(PCR): It is frequently used to identify genetic changes that can lead to disease, diagnose some infectious disorders, and occasionally even find minute numbers of cancer cells that might be overlooked by other kinds of tests.
Whole Exome Sequencing (WES)
Newborn Screening Test
Metabolic Genetic Test
BRCA1 and BRCA2 Gene Test
Clinical Exome Sequencing
Recurrent Pregnancy Loss Test
Cardio Genetic Test
Thalassemia Mutation Testing
Chromosomal Microarray
Carrier Screening Test
Endocrine Genetic Test
Ocular Genetic Test