MSPrecise: A molecular diagnostic test for multiple sclerosis using next generation sequencing.

ABSTRACT:

Background

We have previously demonstrated that cerebrospinal fluid-derived B cells from early relapsing-remitting multiple sclerosis (RRMS) patients that express a VH4 gene accumulate specific replacement mutations. These mutations can be quantified as a score that identifies such patients as having or likely to convert to RRMS. Furthermore, we showed that next generation sequencing is an efficient method for obtaining the sequencing information required by this mutation scoring tool, originally developed using the less clinically viable single-cell Sanger sequencing.

Objective

To determine the accuracy of MSPrecise, the diagnostic test that identifies the presence of the RRMS-enriched mutation pattern from patient cerebrospinal fluid B cells.

Methods

Cerebrospinal f

SUBMITTER: Rounds WH 

PROVIDER: S-EPMC4702260 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature