Panel name | NGS Neonatal diabetes mellitus |
---|---|
Panel method | Wes-based NGS |
Panel version ** | |
Panel quality *** | C |
Core-NL | No core-NL genes included |
CNV analysis | No |
Location | Location AMC |
Genes (21) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
ABCC8 | C | 100.00 | 100.00 | NM_000352.6 | |
EIF2AK3 | C | 99.96 | 100.00 | NM_004836.7 | |
FOXP3 | C | 99.98 | 100.00 | NM_014009.4 | |
GATA4 | C | 99.96 | 100.00 | NM_001308093.3 | |
GATA6 | C | 99.99 | 100.00 | NM_005257.6 | |
GCK | C | 100.00 | 100.00 | NM_000162.5 | |
GLIS3 | C | 100.00 | 100.00 | NM_001042413.2 | |
HNF1B | C | 100.00 | 100.00 | NM_000458.4 | |
IER3IP1 | C | 100.00 | 100.00 | NM_016097.5 | |
INS | C | 100.00 | 100.00 | NM_000207.3 | |
KCNJ11 | C | 100.00 | 100.00 | NM_000525.4 | |
MNX1 | C | 83.12 | 86.38 | NM_005515.4 | |
NEUROD1 | C | 100.00 | 100.00 | NM_002500.5 | |
NEUROG3 | C | 100.00 | 100.00 | NM_020999.4 | |
NKX2-2 | C | 100.00 | 100.00 | NM_002509.4 | |
PDX1 | C | 100.00 | 100.00 | NM_000209.4 | |
PTF1A | C | 99.93 | 100.00 | NM_178161.3 | |
RFX6 | C | 99.97 | 100.00 | NM_173560.4 | |
SLC19A2 | C | 100.00 | 100.00 | NM_006996.3 | |
SLC2A2 | C | 100.00 | 100.00 | NM_000340.2 | |
ZFP57 | C | 100.00 | 100.00 | NM_001109809.5 |
Indication(s) |
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Neonatal diabetes mellitus |
** 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