Genetic Test

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 […]

Genetic Testing For Cancer We are constantly learning more and more about genetics and how it affects our health and our risk of developing cancer. If a person has a family history of cancer, then that person might have a higher risk of developing cancer. Genetic testing for cancer can help us to find out […]

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 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 […]

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 […]

It is possible for a pregnancy test to show a negative result one day and a positive result the next day. There are several factors that can cause this change, such as the timing of the test in relation to ovulation and implantation, the concentration of the hormone hCG in the urine, and the sensitivity of the pregnancy test. It is important to follow the instructions of the pregnancy test and, if in doubt, consult with a healthcare professional for further guidance.

MUSCULAR DYSTROPHIES Many, indeed most, neuromuscular disorders have a Mendelian basis. Partly for this reason, and partly because of the severe chronic disability produced by many of them, they represent a major category of genetic counselling requests and referrals. The muscular dystrophies, a large group of progressive, primary muscle disorders, form a particularly important problem, […]

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, […]

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 […]

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 […]