Analytical Validity

Can the test accurately detect whether a specific genetic variant is present or absent?

In multiple academic and commercial validation studies, the next-generation sequencing (NGS) methodology has been proven to achieve the accuracy and reliability of earlier, more laborious methodologies. There is a body of evidence showing that NGS techniques can confidently identify different types of genetic mutations ranging from single base pair substitutions to large copy number variants.

A universal carrier test for the long tail of Mendelian disease.

Reprod Biomed Online. Oct 2010;21(4):537-551. PMID 20729146 Srinivasan BS, Evans EA, Flannick J, et al.

Understanding the Basics of NGS: From Mechanism to Variant Calling.

Current Genetic Medicine Reports. 2015;3(4):158-165. doi:10.1007/s40142-015-0076-8 Muzzey D, Evans E, Lieber C.

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

Clinical Chemistry. 2016;62(4):647-654. doi:10.1373/clinchem.2015.249623. Beck T, Mullikin J, Biesecker L.

Responsible implementation of expanded carrier screening.

Eur J Hum Genet. Jun 2016;24(6):e1-e12. PMID 26980105 Henneman L, Borry P, Chokoshvili D, et al.