| Panel name | NGS Preconception panel |
|---|---|
| Panel method | Wes-based NGS |
| Panel version ** | PCOv5 / BMUTtypeAv1 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location AMC |
| Genes (50) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| AGA | C | 100.00 | 100.00 | ||
| ALDH3A2 | C | 100.00 | 100.00 | ||
| ARSA | C | 100.00 | 100.00 | ||
| ASPA | C | 100.00 | 100.00 | ||
| ASS1 | C | 78 | 78 | ||
| BCKDHB | C | 100.00 | 100.00 | ||
| BLM | C | 100.00 | 100.00 | ||
| CBS | C | 100.00 | 100.00 | ||
| CFTR | C | 100.00 | 100.00 | ||
| CLN3 | C | 99 | 100 | ||
| CLN5 | C | 100.00 | 100.00 | ||
| COL17A1 | C | 100.00 | 100.00 | ||
| CRTAP | C | 99 | 100 | ||
| DHCR7 | C | 100.00 | 100.00 | ||
| ELP1 | C | 100.00 | 100.00 | ||
| FANCC | C | 100.00 | 100.00 | ||
| G6PC1 | C | 100.00 | 100.00 | ||
| GAA | C | 100.00 | 100.00 | ||
| GALC | C | 91 | 92 | ||
| HADHA | C | 100.00 | 100.00 | ||
| HBB | C | 100.00 | 100.00 | ||
| HEXA | C | 100.00 | 100.00 | ||
| HGSNAT | C | 95 | 97 | ||
| HSD17B4 | C | 100.00 | 100.00 | ||
| IDUA | C | 100.00 | 100.00 | ||
| IVD | C | 100.00 | 100.00 | ||
| LAMA3 | C | 100.00 | 100.00 | ||
| LAMB3 | C | 100.00 | 100.00 | ||
| LAMC2 | C | 100.00 | 100.00 | ||
| MAN2B1 | C | 100.00 | 100.00 | ||
| MCOLN1 | C | 100.00 | 100.00 | ||
| MLC1 | C | 100.00 | 100.00 | ||
| MUSK | C | 100.00 | 100.00 | ||
| NBN | C | 100.00 | 100.00 | ||
| NEB | C | 87 | 88 | ||
| NPC1 | C | 100.00 | 100.00 | ||
| PEX1 | C | 100.00 | 100.00 | ||
| PEX12 | C | 100.00 | 100.00 | ||
| PEX7 | C | 100.00 | 100.00 | ||
| PMM2 | C | 99 | 100 | ||
| POLG | C | 100.00 | 100.00 | ||
| PPT1 | C | 99 | 100 | ||
| SACS | C | 100.00 | 100.00 | ||
| SGSH | C | 98 | 100 | ||
| SMN1 | unknown | MLPA | |||
| SMPD1 | C | 100.00 | 100.00 | ||
| TMEM216 | C | 99 | 100 | ||
| TPP1 | C | 100.00 | 100.00 | ||
| TSEN54 | C | 100.00 | 100.00 | ||
| TTPA | C | 98 | 100 |
| Indication(s) |
|---|
| Preconceptional testing |
| Preconceptional testing |
** 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