Single Genes

The type of test method required depends on the type of change that causes the disorder.

• Sanger sequencing for hotspot analysis and single gene sequencing
• Next generation sequencing (NGS) for single gene sequencing and NGS-based copy number variation (CNV) analysis
• Deletion/duplication testing to identify large deletions or duplications using MLPA (multiplex ligation-dependent probe amplification) or qPCR (real-time polymerase chain reaction)
• Fragment length analysis (FLA) and/or repeat primed assays (RPA) to detect the extent of the repeat expansions using a capillary sequencer