Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 52: 1971-1972, 2006; 10.1373/clinchem.2006.073957
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Web of Science (1)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Tejedor, D.
Right arrow Articles by Pocoví, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tejedor, D.
Right arrow Articles by Pocoví, M.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Lipids, Lipoproteins, and Cardiovascular Risk Factors
(Clinical Chemistry. 2006;52:1971-1972.)
© 2006 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Comparison of DNA Array Platform vs DNA Sequencing as Genetic Diagnosis Tools for Familial Hypercholesterolemia

Diego Tejedor1,a, Sergio Castillo2, Pilar Mozas3, Elisa Jiménez1, Mónica López1, M. Teresa Tejedor4, Marta Artieda1, Rodrigo Alonso5, Pedro Mata5, Laureano Simón1, Antonio Martínez1 and Miguel Pocoví3

1 Progenika Biopharma, SA, Derio, Spain
2 Lacer, SA, Barcelona, Spain
3 Departamento de Bioquímica, y Biología Molecular y Celular, 4 Departamento de Anatomía, Embriología y Genética Animal, Universidad de Zaragoza, Zaragoza, Spain
5 Unidad de Lípidos, Fundación Jiménez Díaz, Madrid, Spain

aAddress correspondence to this author at: Progenika Biopharma, SA, Edificio 801, Parque Tecnológico de Zamudio, 48160 Derio, Spain. Fax 34-94-406-45-26; e-mail dtejedor@progenika.com.

The first 20% of the full text of this article appears below.


To the Editor:

The report by Blesa et al. (1) compares 2 methods, DNA sequencing and DNA arrays [as previously reported by us (2)], for the genetic diagnosis of familial hypercholesterolemia (FH).

Lipochip® (Lacer SA), the first DNA array-based commercial platform for the genetic diagnosis of FH, is now available and is funded by the Spanish Health Service. The procedure is as follows: blood samples are shipped to a central laboratory, where DNA is analyzed with the first CE-marked (approved for sale in the European Community) DNA array for in vitro diagnosis in Europe. Samples with a negative result undergo large rearrangement analysis by quantitative fluorescence-based multiplex PCR (3). If this analysis is also negative, DNA sequencing is carried out to identify new disease-causing variations. The results are compiled in a full report that is sent to the patient’s physician.

Most of the comments by Blesa et al. on our DNA array refer . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 J Am Coll CardiolHome page
F. Civeira, E. Jarauta, A. Cenarro, A. L. Garcia-Otin, D. Tejedor, D. Zambon, M. Mallen, E. Ros, and M. Pocovi
Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting
J. Am. Coll. Cardiol., November 4, 2008; 52(19): 1546 - 1553.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. L. Garcia-Otin, M. Cofan, M. Junyent, D. Recalde, A. Cenarro, M. Pocovi, E. Ros, and F. Civeira
Increased Intestinal Cholesterol Absorption in Autosomal Dominant Hypercholesterolemia and No Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes
J. Clin. Endocrinol. Metab., September 1, 2007; 92(9): 3667 - 3673.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2006 by the American Association for Clinical Chemistry.