High|Throughput DNA Analyzer and Dedicated Cystic Fibrosis ...

High-Throughput DNA Analyzer and Dedicated Cystic Fibrosis ...

The MiSeqDx Cystic Fibrosis 139-Variant Assay is a next-generation sequencing test designed for the simultaneous detection of 139 clinically ...

Cystic fibrosis cell models for high-throughput analysis and drug ...

Cystic fibrosis (CF) is a single-gene disorder that affects the lung, digestive system, and other organs. Mutations in the CF transmembrane ...

The importance of functional tests to assess the effect of a new ...

More than 2000 sequence variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR; NM_000492. ... DNA Analyzer (Foster City, ...

Cystic Fibrosis and DNA Tests - Princeton University

Ultimately, the CF gene product—known as the cystic fibrosis transmembrane conductance regula- tor (CFTR)--links DNA instructions with a critical biochemical ...

Rapid Detection of Emerging Pathogens and Loss of Microbial ...

In terms of high-throughput robotic DNA extraction ... Detection of anaerobic bacteria in high numbers in sputum from patients with cystic fibrosis.

Video Library - mobile.Labmedica.com

Article: High-Throughput DNA Analyzer and Dedicated Cystic Fibrosis Assays Approved for Diagnostics Use in the United States (03 Dec 2013). Article: Compact ...

MiSeqDx Instrument | IVD NGS system with global ... - Illumina

... cystic fibrosis testing, reproductive health, oncology testing, and more. ... sequencing of DNA libraries from human genomic DNA extracted from peripheral ...

The L467F-F508del Complex Allele Hampers Pharmacological ...

... High-Capacity cDNA Reverse Transcription Kit (Applied ... Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA.

Biological variability of the sweat chloride in diagnostic sweat tests

The sweat test is the current gold standard for the diagnosis of cystic fibrosis (CF). CF is unlikely when sweat chloride (Clsw) is lower ...

Next-generation sequencing for identifying genetic mutations in ...

Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients. ... Use of dedicated gene panel sequencing using next generation ...

TruSight Cystic Fibrosis - Illumina

Method, Targeted DNA sequencing, Amplicon sequencing ; Nucleic acid type, DNA ; Sample throughput, 24–96 samples per sequencing run ; Order the NovaSeq X Series.

Search Results - EGA European Genome-Phenome Archive

methylation profiling by high-throughput sequencing ... Cystic Fibrosis Nasal Epithelium Gene Expression by RNAseq ... dedicated to improving health and ...

Pilot study to test inhaled nitric oxide in cystic fibrosis patients with ...

The primary endpoint of this pilot study was safety and tolerability of intermittent high-dose iNO in NTM-CF patients. ... DNA or hinder DNA repair mechanisms to ...

New Molecular Diagnosis Approaches — From the Identification of ...

... Cystic Fibrosis Genetic Analysis ... Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.

Producing an Ovine Model of Cystic Fibrosis - DigitalCommons@USU

... dedicated to developing ... Analysis of biological selections for high-efficiency gene ... Identification of the cystic fibrosis gene: genetic analysis.

Phenotypes of CF rabbits generated by CRISPR/Cas9 ... - JCI Insight

Mutations of the CFTR gene lead to cystic fibrosis (CF), one of the most common life-threating autosomal recessive disorders (1). The disease is ...

Maternal Fetal Medicine | St. Luke's Women's Health

... cystic fibrosis, hemoglobin electrophoresis and expanded carrier screening. Your physician might refer you for a genetic counseling session in the event of ...

Prevalence of CFTR mutations in hypertrypsinaemia detected ...

Nowadays, most of the neonatal screening programs for cystic fibrosis (CF) combine the assay of immunoreactive trypsinogen (IRT) with the ...

(PDF) Dedicated low-cost spectrophotometer to assist in cystic ...

PDF | The sweat test (ST) is essential in the diagnosis of cystic fibrosis (CF) whose protocol provides for the measurement of chloride in ...

High-content assay for CFTR monitoring: simultaneous ... - bioRxiv

Cystic fibrosis (CF) is a life-limiting disease caused by mutations in the human CFTR gene, encoding an anion-selective channel. Because CF- ...