Publications by authors named "Chris Civalier"
Background: Diff-Quik-stained fine-needle aspiration (FNA) smears and touch preparations from biopsies represent alternative specimens for molecular testing when cell block or biopsy material is insufficient. This study describes the use of these samples for targeted next-generation sequencing (NGS) of primary and metastatic lung adenocarcinoma and reports the DNA quality and success rates of FNA smears versus other specimens from 1 year of clinical use.
Methods: A validation set of 10 slides from 9 patients with prior clinical epidermal growth factor receptor (EGFR) Sanger sequencing and KRAS pyrosequencing (5 KRAS-positive/EGFR-negative and 4 KRAS-negative/EGFR-negative) underwent DNA extraction, quality assessment, and targeted NGS.
Article Synopsis
- Pharmacogenetic testing is increasingly used, but there is a lack of quality control materials covering important genetic variations typically assessed.
- The CDC's Genetic Testing Reference Material Coordination Program has created a panel of 107 genomic DNA reference materials focusing on five key gene loci commonly included in these tests.
- The study found consistent results across multiple laboratories, with variations arising mainly from assay design and nomenclature, and additional testing of nine other pharmacogenetic loci was also conducted.
Atherosclerosis is a leading cause of morbidity and mortality. Oxidative stress is thought to play a role in its pathogenesis. Bilirubin is an endogenous antioxidant that is mildly elevated in people with Gilbert syndrome.
View Article and Find Full Text PDFCytomegalovirus (CMV) is a significant cause of morbidity and mortality in immunocompromised patients. We compared the CMV pp65 antigenemia test with a less labor intensive quantitative polymerase chain reaction (PCR) assay in 109 whole blood samples predominantly from transplant patients and patients with AIDS. DNA was amplified on an Applied Biosystems 7900 instrument using a TaqMan probe targeting the CMV polymerase gene and the APOB human control gene.
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- The 3243A>G mutation in the MTTL1 gene and the 8344A>G mutation in the MTTK gene are key genetic mutations linked to mitochondrial diseases like encephalomyopathy and myoclonic epilepsy.
- A new LightCycler real-time PCR assay was developed to detect these mutations using advanced fluorescence technology and melting curve analysis.
- This new method accurately identified all positive and negative samples for these mutations, making it a quicker and more reliable alternative to traditional DNA detection techniques.
Congenital human cytomegalovirus (HCMV) infection affects 1% of children and is the most common infectious cause of sensorineural hearing loss. Due to the difficulty of diagnosing deafness and other neurological disorders in infants, affected individuals may not be recognized until much later when active infection has resolved and culture is no longer informative. To overcome this problem, congenital HCMV infection was diagnosed retrospectively by testing residual blood samples collected from newborns and dried on perinatal cards as part of the North Carolina Newborn Screening Program.
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