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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Deletion/Duplication Analysis

Molecular genetic testing to identify larger size deletions or duplications (typically between 40 basepairs and 40 Kilobases) of DNA within a gene. These methods typically do not detect smaller deletions or duplications of a few base pairs (which can be identified by other methods). Methods used include: array CGH; Multiplex Ligation-dependent Probe Amplification (MLPA); quantitative, real-time, or deletion-specific PCR; or Southern blot

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