scope:

This guideline specifies recommendations for all aspects of the sequencing process including specimen collection and handling, isolation of nucleic acid, amplification and sequencing of nucleic acids, and general interpretation and reporting of genotyping results. It is the intent of this document to provide instruction for verifying that the sequence obtained is accurate and suitable for subsequent interpretation; to address general interpretation of the sequence; and to provide quality control/assessment considerations for each step of the process as appropriate.

The intended users of this guideline are manufacturers and laboratories involved in the development, verification, validation, and implementation of sequencing-based assays.

This guideline:

• oes not address emerging methodologies such as array-based sequencing but is limited to automated, PCR, dideoxy-terminator, and primer extension sequencing done on gel- or capillary-based sequencers; and

• is not intended to provide very specific guidelines for interpreting every possible medical consequence that can be discerned from analyzing individual sequencing results.