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GTR Home > Tests > Brain malformations



Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 500

Test comments


NGS panel covers the analysis of the entire coding region of 261 genes associated with brain malformations. CNV analysis is included in the panel.

Test development


Not provided

Confirmation of results


Pathogenic/likely pathogenic findings are confirmed using additional technologies.

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