High Throughput Genotyping and Sequencing and Nucleic Acid Extraction

The High Throughput Genotyping and Sequencing Core provides sequence analysis for clinical applications and a variety of genotyping methods for research investigations. The core works with investigators to determine the best approach for the research project and the degree of analysis to be performed in the core versus the investigator’s laboratory.  

Clinical Sequence Analysis

After identification of a causative gene for genetic disorder in an internal or external research lab, the core validates and offers sequence analysis of the gene under clinical standards and regulations.

High Throughput Genotyping

A variety of platforms are available for microsatellite or single nucleotide (SNP) analysis, depending on the number of loci and patients being analyzed.  Microsatellite analysis is performed using fluorescently-labeled PCR primers with electrophoreses and analysis on the Applied Biosystems (AB) Genetic Analyzers (3130 or 3730).  SNP analysis can be performed using the SNPlexTM Genotyping System (Applied Biosytems, up to 48 SNPs per reaction), allele discrimination using TaqManR technology (Applied Biosystems Sequence Detection System 7900HT), analysis by liquid hybridization on the Luminex 200 (up to 50 SNPs per reaction), or Sequenom Mass Array.

Nucleic Acid Extraction

The nucleic acid extraction core supports clinical trials that require high quality nucleic acids.  A variety of methods are available for nucleic acid extraction from blood, tissue, or buccal swabs.  Quality control to test the integrity of the DNA or RNA is performed at the investigator’s request.  Each trial or project is managed separately after discussion with the investigator regarding optimal collection methods and desired downstream applications.