Disease relevance of Diagnostic Services

• These results should prove useful to medical and molecular geneticists studying mutations and providing DNA diagnostic services to families dealing with Lowe syndrome as well as to cell biologists interested in structure-function relationships for the OCRL1 protein [1].
• A comprehensive review of all oral premalignant lesions and squamous cell carcinomas (SCC) diagnosed and biopsied by the oral pathology diagnostic service at the University of Alberta over two sequential five-year periods (1984-1988 and 1989-1993) was undertaken [2].

High impact information on Diagnostic Services

• We describe results from the first year of a three year economic evaluation of genetic services in the context of DNA probes provided at three genetic centres in Great Britain. The analysis so far has concentrated on the costs of providing DNA diagnostic services [3].
• PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene [4].
• Between 1989 and 1996, related services, such as health counseling, for children with ADHD increased 10-fold, and diagnostic services increased 3-fold [5].
• This study provides further evidence that exon 24 in SCN4A is a hot spot for paramyotonia mutations and this has implications for a DNA based diagnostic service [6].
• Despite the observed variations, most laboratory professionals seemed to understand the complexities involved in the diagnosis and subclassification of VWD, and the laboratories can provide an effective diagnostic service [7].

Anatomical context of Diagnostic Services

• RESULTS: Bone marrow trephine biopsy specimens are embedded routinely in methyl methacrylate at the Haematological Malignancy Diagnostic Service at The Leeds General Infirmary [8].

Associations of Diagnostic Services with chemical compounds

• Data are presented on the analytical performance of assays for serum oestradiol in the UK External Quality Assessment Scheme (UKEQAS) and general guidance is offered to laboratories providing a diagnostic service for this analyte [9].

Gene context of Diagnostic Services

• In addition, we have also begun to offer a limited diagnostic service for the juvenile (JNCL) and infantile (INCL) forms of the disease on the basis of mutation analysis of the CLN3 and CLN1 genes, respectively [10].
• So far, diagnostic services have been offered only to those families in which linkage to one RP locus (RP2 or RP3) has been clearly established [11].
• Aims: To present an audit of the MNRI mtDNA diagnostic service between 1990 and 2001, encompassing 1725 referred patients [12].
• In view of these results we were able to establish a routine diagnostic service for B19 IgM using fetal liver derived antigen, and the results obtained on the first 459 clinical specimens are presented [13].
• To assess the validity of retrospective medical chart review as a method of classifying prostate-specific antigen (PSA) tests as screening or diagnostic services, we reviewed PSA tests ordered at a university hospital (n = 95) [14].

Analytical, diagnostic and therapeutic context of Diagnostic Services

• The replacement of growth hormone (GH) radioimmunoassays with a variety of more specific immunometric methods in diagnostic service laboratories has led to a worsening of between-laboratory agreement, reflecting differences in method bias [15].

References