Panel name | NGS Neurodegeneration with brain iron accumulation NBIA |
---|---|
Panel method | WES-based NGS |
Panel version ** | v3 |
Panel quality *** | A/C |
Core-NL | 2 core-NL genes included |
CNV analysis | No |
Location | Location VUmc |
Genes (10) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
ATP13A2 | C | 99.8 | |||
C19orf12 | C | 100.0 | |||
COASY | C | 100.0 | |||
CP | C | 99.5 | |||
DCAF17 | C | 93.7 | |||
FA2H | C | 100.0 | |||
FTL | C | 100.0 | |||
PANK2 | A | 99.8 | core-NL | ||
PLA2G6 | A | 100.0 | core-NL | ||
WDR45 | C | 100.0 |
Indication(s) |
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Neurodegeneration with brain iron accululation NBIA |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C