Neurodegeneration with brain iron accumulation (NBIA) represent a group of rare neurodevelopmental diseases, genetically as well as phenotypically heterogeneous. The diagnosis is based on brain MRI. It is also based on genetic testing. However overlaps exist between the different clinical presentations and the molecular diagnosis may be misinterpreted. Two main purposes must be addressed to get a better molecular diagnosis: on one hand reaching enough exhaustivity which may be performed with a larger gene panel and next generation sequencing; on the other hand, it is now necessary to validate or infirm the deleterious consequences of variants with the help of functional studies.
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Sequencing tests of a panel of 22 genes using a dedicated custom capture and a medium throughput sequencing protocol.
Timeframe: through study completion, an average of 2 years
Sequencing tests of a panel of 22 genes using a dedicated custom capture and a medium throughput sequencing protocol.
Timeframe: through study completion, an average of 4 years