What is Down Syndrome? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome […]
Are you concerned about your family history of cancer? Take control of your health with predictive genetic testing for cancer in Hyderabad. Advanced genetic tests can help you understand your inherited risk, enabling early intervention and personalized prevention strategies. Why Choose Predictive Genetic Testing for Cancer? Predictive genetic testing analyzes your DNA to detect inherited mutations […]
Which Screening Tests Are Offered? Newborn screening includes tests for: Metabolic problems. Metabolism is the process that converts food into energy the body can use to move, think, and grow. Enzymes are special proteins that help with metabolism by speeding up the chemical reactions in cells. Most metabolic problems happen when certain enzymes are missing […]
WHAT IS VESTIBULAR HYPOFUNCTION? Vestibular hypofunction is a vestibular disorder that affects the balance of an individual. The Academy of Neurologic Physical Therapy website mentions, “Unilateral vestibular hypofunction (UVH) is used when the balance system in your inner ear, the peripheral vestibular system, is not working properly. Each inner ear has a vestibular system, so […]
Chromosome: All 23 pairs of human chromosomes can be distinguished microscopically from each other, and much fine detail within each chromosome can also be recognised. An agreed international system of nomenclature, reviewed at regular intervals, forms the basis of reports from laboratories. Although these reports will usually include an explanatory text or be accompanied by […]
COPY NUMBER VARIANTS The ability to detect chromosomal deletions and duplications through the microscope has been limited: only the larger deletions or duplications have been detected. Several approaches have been developed to improve our recognition of such copy number variants (CNVs). Three approaches are mentioned here: Fluorescence in situ hybridisation (FISH) This uses fluorescent-labelled DNA […]
Malformation Syndromes: It is important to establish aetiology, where possible, for practical reasons of genetic counselling, but some of these disorders are proving to be of great importance in basic research, particularly where specific genes are involved. As the techniques of molecular genetics are applied to dysmorphology, many more syndromes will prove useful as models […]
WHAT DO WE MEAN BY ‘CARRIER’? The term ‘carrier’ is widely used in medicine. It is often applied to those harbouring an infective agent but not overtly sick because of it, quite apart from its use in medical genetics. The term may be used by different people with entirely different connotations, and a precise definition […]
Prenatal Diagnosis: The development of techniques for diagnosing genetic disorders in utero was a major advance in medical genetics and has so altered the outlook for families at risk of having affected children that it has become one of the main options open to those receiving genetic counselling, especially where there is a high risk […]
TREATMENT FOR GENETIC DISEASES In comparison with other types of disease, such as major infections, nutritional deficiencies or even cancers, most genetic disorders has been relatively unresponsive to treatment or to primary preventive measures. As these other disease categories have become less common, so the relative contribution of genetic disorders has increased. It is this, […]
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