Two new benefits in AOS

Currently, genetic diagnosis involves patients making many medical visits as well as performing many genetic tests, resulting in high costs for overall clinical diagnosis.

The Health Minister's Order of November 6, 2013 on guaranteed outpatient specialty care services adds two new health care services to Appendix 2:

1) Genetic testing by Array Comparative Genomic Hybridization for microarrays (aCGH);

2) Expression analysis of a gene or several genes (including fusion genes) using Real-Time PCR - Real-Time Quantitative Polymerase Chain Reaction(qRT-PCR).

Genetic factors play an important role in the pathogenesis of congenital developmental disorders such as psychomotor retardation, intellectual disability, behavioral disorders on the autism spectrum, multiple congenital malformations coexisting with dysmorphic features in body structure or epilepsy. Diagnosis of congenital defects is important in both the pre- and postnatal periods. In most cases, it does not directly affect the course of treatment, but it allows the diagnosis to be made, the course of the condition to be established and the appropriate medical care and prognosis to be determined, as well as the choice of optimal rehabilitation or care management.

The introduction of two new genetic tests will shorten the period of the so-called "diagnostic odyssey," speed up the determination of the course of the condition and the implementation of targeted treatment, thus mitigating the effects of genetic diseases.

Source: RCL