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

Methodology

Methodology

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

Test development

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Test developed by laboratory (no manufacturer test name)

Test procedure

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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.

Citations

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Confirmation of results

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

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.