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Table 2 Indications for CMA, ES, and WGS that would benefit from approval in Brazil

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

UNAPPROVED INDICATIONS FOR CMA, ES, AND WGS THAT WOULD BENEFIT FROM APPROVAL

Critically ill children

Neurodegenerative diseases

Epilepsy

RD suspicion based on family history or clinical presentation

Cardiogenetic diseases

Hereditary cancers

Autism spectrum disorders

Undiagnosed diseases

Inborn errors of immunity

 
  1. CMA Chromosomal microarray analysis, ES Exome sequencing, WGS Whole genome sequencing
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International Journal for Equity in Health

ISSN: 1475-9276

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