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GTR Home > Tests > NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)



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

Test development


Test developed by laboratory (no manufacturer test name)

Test procedure


All coding exons, 50 bp of flanking intronic sequence and at least 100bp of untranslated regions are enriched using Haloplex HS custom targeted protocol (Agilent), followed by high throughput sequencing (Illumina). Sequence variants changes are assessed and interpreted using commercial software combined with public and our own expert database. All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request.


Not provided

Confirmation of results


If we found a pathogenic variation, we perform an independent analysis to confirm the finding

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