| Panel naam | NGS Preconceptiepanel |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | PCOv3 / BMUTtypeAv1 |
| Panel kwaliteit *** | A |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Mozaïek detectie | Ja |
| Notitie | ELP1 - exon 19.20 only; HGSNAT - exon1 = typeC; NEB - exons 53-57 only; TSEN54 - exon 1 = typeC; |
| Locatie | Locatie AMC |
| Genen (50) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AGA | A | 100.00 | 100.00 | ||
| ALDH3A2 | A | 100.00 | 100.00 | ||
| ARSA | A | 100.00 | 100.00 | ||
| ASPA | A | 100.00 | 100.00 | ||
| ASS1 | A | 100.00 | 100.00 | ||
| BCKDHB | A | 100.00 | 100.00 | ||
| BLM | A | 100.00 | 100.00 | ||
| CBS | A | 100.00 | 100.00 | ||
| CFTR | A | 100.00 | 100.00 | ||
| CLN3 | A | 100.00 | 100.00 | ||
| CLN5 | A | 100.00 | 100.00 | ||
| COL17A1 | A | 100.00 | 100.00 | ||
| CRTAP | A | 100.00 | 100.00 | ||
| DHCR7 | A | 100.00 | 100.00 | ||
| ELP1 | A | 100.00 | 100.00 | Alleen exon 19, 20 Kwaliteit A, rest type C | |
| FANCC | A | 100.00 | 100.00 | ||
| G6PC1 | A | 100.00 | 100.00 | ||
| GAA | A | 100.00 | 100.00 | ||
| GALC | A | 100.00 | 100.00 | ||
| HADHA | A | 100.00 | 100.00 | ||
| HBB | A | 100.00 | 100.00 | ||
| HEXA | A | 100.00 | 100.00 | ||
| HGSNAT | A | 100.00 | 100.00 | Kwaliteit A, muv exon 1 (kwaliteit C) | |
| HSD17B4 | A | 100.00 | 100.00 | ||
| IDUA | A | 100.00 | 100.00 | ||
| IVD | A | 100.00 | 100.00 | ||
| LAMA3 | A | 100.00 | 100.00 | ||
| LAMB3 | A | 100.00 | 100.00 | ||
| LAMC2 | A | 100.00 | 100.00 | ||
| MAN2B1 | A | 100.00 | 100.00 | ||
| MCOLN1 | A | 100.00 | 100.00 | ||
| MLC1 | A | 100.00 | 100.00 | ||
| MUSK | A | 100.00 | 100.00 | ||
| NBN | A | 100.00 | 100.00 | ||
| NEB | A | 100.00 | 100.00 | Alleen exonen 53-57 kwaliteit A, rest kwaliteit C | |
| NPC1 | A | 100.00 | 100.00 | ||
| PEX1 | A | 100.00 | 100.00 | ||
| PEX12 | A | 100.00 | 100.00 | ||
| PEX7 | A | 100.00 | 100.00 | ||
| PMM2 | A | 100.00 | 100.00 | ||
| POLG | A | 100.00 | 100.00 | ||
| PPT1 | A | 100.00 | 100.00 | ||
| SACS | A | 100.00 | 100.00 | ||
| SGSH | A | 100.00 | 100.00 | ||
| SMN1 | A | 100.00 | 100.00 | ||
| SMPD1 | A | 100.00 | 100.00 | ||
| TMEM216 | A | 100.00 | 100.00 | ||
| TPP1 | A | 100.00 | 100.00 | ||
| TSEN54 | A | 100.00 | 100.00 | Kwaliteit A, muv exon 1 (kwaliteit C) | |
| TTPA | A | 100.00 | 100.00 |
| Indicatie(s) |
|---|
| Preconceptionele testen |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C