Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

Table 1 Approved CMA, ES, and WGS testing for RD in Brazil’s public and private healthcare setting

APPROVED INDICATIONS	PUBLIC SYSTEM (SUS)			PRIVATE HEALTH INSURANCE
APPROVED INDICATIONS	CMA	ES	WGS	CMA	ES	WGS
Intellectual disability	✓	✓		✓^a	✓^b
Developmental delay	✓			✓^a	✓^b
Multiple congenital anomalies	✓			✓^a

^aOnly after a negative karyotype
^bOnly after negative CMA
CMA Chromosomal microarray analysis, ES Exome sequencing, WGS Whole genome sequencing, SUS Sistema Único de Saúde

ISSN: 1475-9276