The gene selection table provides gene-level details, including Mayo Test IDs, acceptable specimen types, additional evaluations of clinically relevant noncoding variants, technical limitations, and other gene-specific ordering guidance. Testing is based on the GRCh37 (hg19) genome build and may include next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, and/or a polymerase chain reaction (PCR)-based qualitative or quantitative methods to detect single-nucleotide variants (SNVs), deletion insertion variants, and copy number variants (CNVs) in the genes analyzed. Unless otherwise specified, testing evaluates coding regions and +/- 10 base pairs of adjacent intronic sequence.

For additional questions, contact the laboratory at 800-533-1710.