Skip Navigation LinksHome Page    >    Tests during the pregnancy    >    Finding the defect (mutation) by establishing the gene sequence – autosomal recessive diseases
 
 
Pregnancy links...
Health links...
Genetics links...
Medical links...
Autism links...
Other links...
 

Finding the defect (mutation) by establishing the gene sequence – autosomal recessive diseases

The test is performed on the patients themselves. The mutation (the defect in the gene) can be determined in the patient by establishing the gene sequence. If the defect is found using this method, it is possible:
  1. To allow a couple that has had an affected child to undergo prenatal diagnosis to determine with a high degree of reliability whether subsequent fetuses are healthy or affected.

  2. To establish which family members carry the mutation and are therefore considered to be carriers but not affected. Family members found to be carriers will be at risk for having an affected child if their partners are also carriers, and therefore their partners should also undergo testing for carrier status. However, gene sequence testing on the partner is not simple – it is expensive, time-consuming, and not completely reliable. Carrier testing involving examining the entire gene sequence is not routinely performed.

If a patient cannot be examined: It is impractical (but possible) to check family members (or the fetus) directly using the same methods, which are time-consuming and complex.
 
Haven't found what you're looking for? Search for it here:   
Comments (2)


Thursday, October 04, 2018 5:34 AM
(1) Simone Strauss  says:


Traugott

I excessive respect this publish. It’s tough to locate the best from the lousy sometimes. However I think you’ve nailed it! Would you mind update your blog with extra facts? Corporation registration is the pain in India, however, Company360.In made it certainly clean were given personal confined organization registration done at lowest fees and quickest personal provider from them. online man shoes


Tuesday, October 16, 2018 3:10 AM
(2) Tim Kortig  says:


Wurfel

We are set up to serve you whenever any wherein live to raise your cell phone, at that point get in touch with us, we can be set up to go to your place in a resort, rental, or household. Choice article. much obliged to you for putting this all in all! this is incredibly one uncommon distribute. a debt of gratitude is in order for the important measurements and experiences you have so outfitted here. commercials law firm





Leave a Comment
Name
Email (will not be published)
Website (optional)
Subject
Your Comment

Line and paragraph breaks are automatic. Some HTML allowed: <a href="" title="">, <b>, <i>, <strike>

Please type the characters you see in the picture:


All content Copyright © 2009-2011, Genetics of Pregnancy Encyclopedia Corporation. All rights reserved.