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What is Copy Number Variation?

What is Copy Number Variation?

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 […]

What is a Chromosome?

What is a Chromosome?

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 […]

What is Autosomal Recessive Inheritance

What is Autosomal Recessive Inheritance

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, […]

What is Autosomal Dominant Inheritance?

What is Autosomal Dominant Inheritance?

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 […]

Autism Gene DNA Test in India

Autism Gene DNA Test in India

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 spectrum disorders […]

How can you improve your Weight Management by studying its Genes

How can you improve your Weight Management by studying its Genes

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 […]

Genetic Tests for Birth Defects

Genetic Tests for Birth Defects

Genetic tests for birth defects? If your doctor has recommended a Genetic test for birth defects for you or your child to diagnose any birth defects, there are various tests available to go for. Mostly all the birth defects are related to chromosomes which are due to structural or numerical changes, but there other tests […]

What is the Cost of Ophthalmological DNA Test in India

What is the Cost of Ophthalmological DNA Test in India

What is the cost of an Ophthalmological DNA test in India? The Cost of an Ophthalmological DNA test in India varies from 20000 Rs depending on various gene locations and the type of methodology used for testing. You can book the DNA test from any city in India. Why do a DNA test? Genetic testing can […]

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