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Mutation Detection Background

Mutation detection, performed using Sanger Sequencing and Pyrosequencing technologies, provides sequence variation data for clinical and non-clinical studies. The LMT, in collaboration with the Advanced Biomedical Computing Center (ABCC), designs assays, generates data, and determines sites of sequence variation.

Mutation Detection services can be applied to your clinical and non-clinical research to:

  • Detect single nucleotide polymorphisms (SNPs) and rare variants in both exonic and intronic regions
  • Assay regions of sequence variation that contain multiple sites of interest (e.g., multiple SNPs, multiple in/dels)
  • Quantify alleles and determine heterozygosity

Mutation Detection via Sanger Sequencing is offered for both clinical samples for which data will be used for diagnosis and/or treatment of the patient, as well as for “research-use only” samples.  Samples whose DNA sequence will be used for diagnosis and/or treatment will be processed in a CLIA-certified environment at the LMT.  If “research-use only” samples are to be analyzed and/or if you require quantification of mutant alleles, other technologies such as Pyrosequencing may be more suitable.

For more information on this service and its applications to your research, visit our Mutation Detection Protocols and Resources page.

Page last updated June 30, 2011 @ 12:04 pm