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 […]
Genetic disorders are becoming increasingly prominent in both childhood and adult chronic diseases. Unlike infectious diseases, nutritional deficiencies, or cancers, many genetic conditions have shown limited response to conventional treatments and preventive measures. This growing significance highlights the urgent need for effective therapies and advanced genetic interventions. While most established treatments for genetic disorders are […]
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, […]
The cost of an Autism DNA test in India starts from ₹20000 depending on various gene locations and the type of methodology used for testing. You can book the DNA test done in any city in India. What is Autism? Autism is a lifelong condition that belongs to a group of neurodevelopmental disabilities known as autism […]
Autosomal Dominant Inheritance: Although, in theory, autosomal dominant inheritance is the simplest model for genetic counselling, in practice it provides some of the most difficult problems, with traps for the unwary that require special mention. An autosomal dominant disorder or trait can be defined either by the observed pattern of transmission between generations in families […]
Autosomal Recessive Inheritance: The principal difficulty with autosomal recessive inheritance is to be sure that this is indeed the mode of inheritance in a particular family. The great majority of cases of an autosomal recessive disorder are born to healthy but heterozygous parents, with no other affected relatives. Vertical transmission, so characteristic of dominant inheritance, […]
Studies have taken us to a different level of analysis of disease. There are proven cases wherein study of the genetic information and its association with proper management of nutrition and diet is the only successful means for a healthy fit body. Identifying the genetic predisposition of an individual can be of great help in […]
DNA Labs India is renowned for utilizing cutting-edge technology to ensure the highest levels of accuracy and precision in their testing results. Their advanced laboratories and equipment guarantee that your DNA analysis is conducted with the utmost rigor.
