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 3600 genes.
- Next generation sequencing (NGS) for single gene sequencing and NGS-based copy number variation (CNV) analysis for over 1700 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.
Single gene testing is recommended for patients with
- Distinctive clinical features
- Family history of a specific disorder
- Single gene disorders
- Possible epigenetic disorder
- Possible Triple repeat disorders
- Family testing confirmation