Panel name | NGS Neurodegeneration with brain iron accumulation NBIA |
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Panel method | Wes-based NGS |
Panel version ** | v3 |
Panel quality *** | 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 | 99.94 | 100.00 | NM_022089.4 | |
C19orf12 | C | 100.00 | 100.00 | NM_031448.6 | |
COASY | C | 100.00 | 100.00 | NM_025233.7 | |
CP | C | 100.00 | 100.00 | NM_000096.4 | |
DCAF17 | C | 99.96 | 100.00 | NM_025000.4 | |
FA2H | C | 100.00 | 100.00 | NM_024306.5 | |
FTL | C | 100.00 | 100.00 | NM_000146.4 | |
PANK2 | C | 100.00 | 100.00 | core-NL | NM_001386393.1 |
PLA2G6 | C | 99.99 | 100.00 | core-NL | NM_003560.4 |
WDR45 | C | 100.00 | 100.00 | NM_001029896.2 |
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