Table 1 Examples of phenotype-directed panels with subpanels

From: Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Full Panel

Subpanel

Pan-cardio panel

Dilated cardiomyopathy

Hypertrophic cardiomyopathy

Hearing loss

Nonsyndromic hearing loss

Usher syndrome

Intellectual disability (ID)

Nonsyndromic ID

Syndromic ID

X-linked ID

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