Massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed.

Mutation analysis by MLPA/TP-PCR is a method that employs a pool of custom-designed probes to specific genomic regions of interest.

Sanger sequencing is a robust testing strategy able to determine whether a point mutation or small deletion/duplication is present.

Prenatal diagnosis is a subfield of clinical genetics and gynecology that exemplifies the effective integration of theoretical and clinical medicine.