Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron overload leads to multiple organ damage such as liver cirrhosis, cardiomyopathy, diabetes, arthritis, hypogonadism and skin pigmentation. Most HH patients carry HFE mutant genotypes: homozygosity for p.Cys282Tyr or p.Cys282Tyr...

Colorectal cancer, a clinically diverse disease, is a leading cause of cancer-related death worldwide. Application of novel molecular diagnostic tests, which are summarized in this article, may lead to an improved survival of colorectal cancer patients.  Distinction of these applications is based on the different molecular principles found in colorectal cancer (CRC). Strategies for molecular an...

down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. the use of two or more str markers related to chromosome 21 facilitates the diagnosis of down syndrome within about six hours from the collection of the samples. this is the first study has been performed in iranian population to assess the diagnostic value of using small tandem repe...

Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...

Herein we show the development of a minimally instrumented paper-based molecular diagnostic for point of care detection of sexually transmitted infections caused by Chlamydia trachomatis. This new diagnostic platform incorporates cell lysis, isothermal nucleic acid amplification, and lateral flow visual detection using only a pressure source and heat block, eliminating the need for expensive la...

A decade after the first studies were performed it is justifiable to claim that molecular techniques have revolutionised the work of the clinical virology laboratory. Hitherto, the role of the virology laboratory was often a retrospective diagnosis based on virus isolation and serology. Nevertheless, the epidemiological data collected in this way justified the continued activity of clinical vir...

L.-J.C. Wong (ed.), Next Generation Sequencing: Translation to Clinical Diagnostics, DOI 10.1007/978-1-4614-7001-4_2, © Springer Science+Business Media New York 2013 Abstract The identifi cation and characterization of the genetic basis of disease is often fundamental to diagnosis. Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective the...