Fig. 1.

Growing trend in genetic testing. (A) Number of patients who underwent germline genetic testing in Korea between 2016 and 2019. (B) KNHIS reimbursement for genetic testing for inherited disorders between 2016 and 2019. The karyotyping and microarray were categorized as chromosome tests, whereas special chromosome analysis for fragile X and chromosome breakage were categorized as other chromosome tests. The data were retrieved using the Electronical Data Interchange code from http://opendata.hira.or.kr/.

Abbreviations: KNHIS, Korean National Health Insurance System; NGS, next-generation sequencing; CMA, chromosomal microarray analysis.