DNA sequencing (246)

The purpose of the scheme is to provide participating laboratories with the opportunity to quality-assure their sequencing methods for the detection of various types of minor sequence variants, as well as to ensure the use of correct nomenclature in accordance with HGVS guidelines.

The scheme is aimed for laboratories that perform sequencing of human genomic DNA. Both the ability to identify the sequence and to report according to HGVS nomenclature are assessed. The samples should be sequenced following the laboratory’s standard procedures.

Test material: 2/round, where one consists of amplicon and primer pairs for a total of two sequencing reactions and one is a total of four sequencing files (ab1- and seq-format, both in forward and reverse order).

Frequency: 1/year

Reports: Normally within two months from closing date.

Swedish laboratories register on our Swedish site. Laboratories from Denmark or Norway register through their national distributors, DEKS (Denmark) or Noklus (Norway). Laboratories from other countries register through Aurevia, our distributor outside Scandinavia. Please, note that the scheme may not be available in all countries.