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, with protocols established for more than 2,700 genes. 
• Next generation sequencing (NGS) for single gene sequencing and NGS-based copy number variation (CNV) analysis for over 6,500 genes. 
• Methylation assays to test for epigenetic disorders.
• Deletion/duplication testing to identify large deletions or duplications using MLPA (multiplex ligation-dependent probe amplification), qPCR (real-time polymerase chain reaction) or ddPCR (digital droplet 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.