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Genetic Testing of Diseases
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Genetic Testing of Diseases
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Comments : 40
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About Genetic Testing |
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Genetic Screening is available for more than 1300 genetic disorders, some of which are listed below-
It is widely known that every human being carries 46 chromosomes, in each cell. Located on these chromosomes are the genes, which produces key proteins, such as hormones and enzymes, which play a pivotal role in the well- being of an individual. Some diseases result from abnormalities or 'mutations', on the chromosomes. Others may arise due to defects in the genes. In some instances, genetic abnormalities are hereditary, while in others it is brought on spontaneously or 'de novo'. It is now widely believed by the scientific fraternity that a combination of genes and environment brings about these mutations, leading to a range of illnesses. Earlier genetic testing was confined to detecting aberrations on the chromosomes through a method called Karyotyping. In recent times, evaluating the DNA, which is the basic unit of heredity, has been made possible, by sophisticated techniques. This has paved way to the better understanding of the familial pattern of inheritance of a wide array of diseases and the identification of the increased propensity of some individuals to develop these diseases.
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Latest Publication and Research on Genetic Testing of Diseases - Updated on 04/18/2013.
Molecular genetics and genetic testing in myotonic dystrophy type 1. - Published by PubMed
Genetics of human congenital urinary bladder disease. - Published by PubMed
Maculopathy and Spinocerebellar Ataxia Type 1: A New Association? - Published by PubMed
Genetic susceptibility testing for neurodegenerative diseases: Ethical and practice issues. - Published by PubMed
A web resource on DNA tests for canine and feline hereditary diseases. - Published by PubMed
Molecular genetics and genetic testing in myotonic dystrophy type 1. - Published by PubMed
Genetics of human congenital urinary bladder disease. - Published by PubMed
Maculopathy and Spinocerebellar Ataxia Type 1: A New Association? - Published by PubMed
Genetic susceptibility testing for neurodegenerative diseases: Ethical and practice issues. - Published by PubMed
A web resource on DNA tests for canine and feline hereditary diseases. - Published by PubMed
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Comment & Contribute
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Posted by:
matilda.loisel(Guest)
Posted on: 03/30/2013 hello doctor, how can i contact you.my cousin is suffering from muscular dystrophy. and doctors have already told that he wont live more than 20 yrs. only female baby can survive out of it. thus my aunty has conceived again.we just wanted to know whether the baby inside her womb is out of this disorder or not.
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Posted by:
sweety23
Posted on: 01/29/2013 Respected Doctor, My brother was suffering eye sight by birth and which we know at his 7-8 yrs. then with the growing yrs. his eye sight also get on increasing. then as last we consulted to dr. vivek sahay of MARTI PRERNA EYE HOSPITAL RANCHI in 2008 and this time his power was -18 and dr. operate ICL to him at JAN 2009 but some problems stay as usual so in jan 2013 we went to kolkatta at vasan eye care to consulted dr. sen he said that he is suff. RHINITIS PROGNATHOUS which will happen to his next generation and can never be cured and we want his married life so i want your suggestion sir . please help and suggest me what can we do?
Posted by:
Anahid
Posted on: 12/12/2012 Hi doctor, My cousin and I are getting married this summer. When we consulted a doctor for normal blood test and genetic test, they said no genetic test is needed which was quiet weird for me. We both want biological children, and I wouldn't want to risk it.
Now my question is, will the premarital normal blood test detect all possible genetic disorders? Or genetic test is needed at any condition?
Posted by:
Amit1686
Posted on: 09/26/2012 Hi Doctor,
i am having GROWING HSP [lower leg limbs are affected], and due to this face extreme difficulty in walking and daily worklife. and now i want to get this tested through genetic testing,
not taking any medicine (due to side effects)
would like to know that, to how much extent it will affect me in future, and also want finish this problem for my coming generations.
please advise.
Thanks
Amit Sahu
Posted by:
tarasankardigar(Guest)
Posted on: 06/27/2012 Hi doctor, I am tarasankar digar and my son also 4 years old. He suffering genetic problem upto born times. New multiple growth in his both i.e. grow-thing point hand finger and leg finger. previous not any genetic patient in my family. please suitable direction to me, do I can now? |
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Posted by:
Dhanus(Guest)
Posted on: 06/16/2012 Hi, Doctors,
We had 3 babies in past, death by different reasons. We came to know that our last baby was a congenital deasease
"Immune deficiency". So we want to check our genetic testing.
Kindly suggest where and how to do the same.
Dhaneswar Das,
9465781446 |
| View all Comments (40) | ||
