Comprehensive Muscular Dystrophy / Myopathy Panel Plus

Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel (version 1, March 9, 2016) consists of sequence analysis of genes associated with distal myopathy and muscular dystrophy: ACTA1, ANO5, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, LIMS2, LMNA, LMOD3, MTM1, MYOT, NEB*, PNPLA2, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3*, TRAPPC11, TRIM32 and TTN*. The panel is targeting all protein coding exons and exon-intron boundaries of all target genes. It also covers a number of mutations located outside these coding regions. This test covers the majority of distal myopathy and muscular dystrophy mutations known to date and it should be used to detect single nucleotide substitutions and small insertions and deletions (INDELs). In addition, the Comprehensive Muscular Dystrophy / Myopathy Panel includes OS-Seq Del/Dup (CNV) Analysis (version 1, updated November 15, 2016) for the same genes as listed above. It should be used to diagnose deletions and duplications (e.g. copy number variants) in protein-coding regions of the genes included in the panel. Detection limit of the test varies through the genome from one to six exons depending on exon size, sequencing coverage and sequence content.