Genetic testing for achromatopsia

Clinical and genetic features of Hungarian achromatopsia patients.

PURPOSE To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients. METHODS Twelve patients with congenital achromatopsia from nine Hungarian families were analyzed in this study. The patients underwent standard ophthalmological examination including detailed full-field electroretinography and color vision testing. In two patients, dar...

Clinical and molecular genetic examinations of patients with congenital achromatopsia

Genetic Testing for Neurofibromatosis

©2017 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 14 Applies to all products admin...

Genetic Testing for Epilepsy

©2016 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 23 Applies to all products admin...

Genetic testing for asthma.

Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, particularly in pre-school children. The predictive value of a single gene test in a complex disease is very...