MUTATION DETECTION AND SCREENING

Mutations are genetic alterations that are acquired in germ or non-germ (somatic) cells. Mutations can be present as an insertion, deletion, or base pair change in the coding or non-coding regions, resulting in silent, missense, or nonsense mutations. In some cases, a mutation occurs at the intron-exon boundary, disrupting the normal splicing of the transcript. Sanger sequencing-based mutation analysis, mutation screening, and exon resequencing all involve high volume PCR amplification and sequencing to uncover these mutations.

Mutation analysis and screening techniques can be used as either your primary source for mutation detection, or as a confirmation of next generation sequencing and microarray results. No matter the application, utilize Azenta’s expertise in targeting genomic regions of DNA with specific, robust assays.

Azenta vs. In-House

Mutation Analysis Turnaround Time Comparison: Azenta versus In-house

AZENTA TURNAROUND: 3 DAYS

IN-HOUSE TURNAROUND: 2-4 WEEKS

SAMPLE SUBMISSIONS GUIDELINES

Azenta accepts purified genomic DNA or can extract genomic DNA from various sample types, including biosafety level 1 (BSL1) and 2 (BSL2) supplied sources. For detailed sample submission requirements please visit our Sample Submission Guidelines page.

Deliverables

All customers will receive raw sequence data files and a final report identifying mutations compared to the provided reference sequence. Custom mutation analysis reports are available upon request.