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GTR Home > Tests > Invitae Microphthalmia/Anophthalmia Disorders Panel

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test development

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Test developed by laboratory (no manufacturer test name)

Confirmation of results

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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods.

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