It consists of 5 Parts and proceeds as follows:Part 1 : DNA is extracted from DBS (Dried Blood Spot) or blood, and its concentration is measured.Part 2 : During the library preparation stage, the measured DNA is used to produce libraries suitable for analysis on NGS instruments. Each DNA is amplified and synthesized DNA oligos, known as Adapters, are attached for amplification in PCR machines.Part 3 : In the target enrichment stage, the prepared libraries undergo target selection to select targets of 265 genes related to rare diseases. These are then amplified again to complete libraries for sequencing analysis.Part 4 : Using next-generation sequencing instruments, sequencing is performed by imaging with fluorescent-labeled dideoxynucleotides specific to each type. The obtained data is converted into text files for mutation analysis.Part 5 : NGS raw data produced from libraries prepared using NEOseq_ACTION® reagents are analyzed for mutations using the Medy_CVi® analysis software, and reports including annotations are generated.