Molecular Genetic Testing in Cystinuria

Molecular Testing in Microbiology

There are significant challenges associated with qualitative and quantitative nucleic acid tests performed in diagnostic laboratories. The development of internationally available certified reference materials which can be traced to reference measurements will contribute to a better understanding of the performance characteristics of nucleic acid tests and enhance reliability and comparability ...

Cystinuria: a new genetic variant.

1. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygo...

Genetic Testing and Molecular Biomarkers

Quality assurance in molecular genetic testing laboratories.

CONTEXT Specific regulation of laboratories performing molecular genetic tests may be needed to ensure standards and quality assurance (QA) and safeguard patient rights to informed consent and confidentiality. However, comprehensive analysis of current practices of such laboratories, important for assessing the need for regulation and its impact on access to testing, has not been conducted. O...

molecular testing in microbiology

there are significant challenges associated with qualitative and quantitative nucleic acid tests performed in diagnostic laboratories. the development of internationally available certified reference materials which can be traced to reference measurements will contribute to a better understanding of the performance characteristics of nucleic acid tests and enhance reliability and comparability ...