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.

Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification

Clinical Chemistry (in press) Hogan GJ, Vysotskaia VS, Seisenberger S, Grauman PV, Beauchamp KA, Haas KR, Hong SH, Jennions D, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Guha S, Iori K, Maguire JR, Wong KK, Evans EA, Haque IS, Mar-Heyming R, Kang HP, Muzzey D

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.