| Panel naam | NGS Interstitiële longziekten ILD |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | v1 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (61) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCA3 | C | 100.00 | 100.00 | NM_001089.3 | |
| AP3B1 | C | 99.99 | 100.00 | NM_003664.5 | |
| AP3D1 | C | 100.00 | 100.00 | NM_001261826.3 | |
| BLOC1S3 | C | 100.00 | 100.00 | NM_212550.5 | |
| BLOC1S5 | C | 100.00 | 100.00 | NM_201280.3 | |
| BLOC1S6 | C | 99.99 | 100.00 | NM_012388.4 | |
| COPA | C | 99.99 | 100.00 | NM_004371.4 | |
| CSF2RA | C | 0 | 0 | NM_172245.4 | |
| CSF2RB | C | 100.00 | 100.00 | NM_000395.3 | |
| CTC1 | C | 100.00 | 100.00 | NM_025099.6 | |
| DKC1 | C | 99.7 | 99.92 | NM_001363.5 | |
| DTNBP1 | C | 100.00 | 100.00 | NM_032122.5 | |
| ERF | C | 99.98 | 100.00 | NM_006494.4 | |
| FAM111B | C | 100.00 | 100.00 | NM_198947.4 | |
| FARSA | C | 100.00 | 100.00 | NM_004461.3 | |
| FARSB | C | 99.95 | 99.97 | NM_005687.5 | |
| FGF10 | C | 100.00 | 100.00 | NM_004465.2 | |
| FGFR2 | C | 100.00 | 100.00 | NM_000141.5 | |
| FLNA | C | 100.00 | 100.00 | NM_001110556.2 | |
| FOXF1 | C | 100.00 | 100.00 | NM_001451.3 | |
| GATA2 | C | 100.00 | 100.00 | NM_032638.5 | |
| GBA1 | C | 99.89 | 99.99 | NM_000157.4 | |
| HPS1 | C | 100.00 | 100.00 | NM_000195.5 | |
| HPS3 | C | 100.00 | 100.00 | NM_032383.5 | |
| HPS4 | C | 100.00 | 100.00 | NM_022081.6 | |
| HPS5 | C | 100.00 | 100.00 | NM_181507.2 | |
| HPS6 | C | 100.00 | 100.00 | NM_024747.6 | |
| ITGA3 | C | 99.97 | 100.00 | NM_002204.4 | |
| MARS1 | C | 99.97 | 100.00 | NM_004990.4 | |
| MUC5B | C | 99.82 | 99.91 | NM_002458.3 | |
| NHP2 | C | 100.00 | 100.00 | NM_017838.4 | |
| NKX2-1 | C | 100.00 | 100.00 | NM_001079668.3 | |
| NOP10 | C | 100.00 | 100.00 | NM_018648.4 | |
| NPC1 | C | 100.00 | 100.00 | NM_000271.5 | |
| NPC2 | C | 100.00 | 100.00 | NM_006432.5 | |
| NSMCE3 | C | 100.00 | 100.00 | NM_138704.4 | |
| OAS1 | C | 100.00 | 100.00 | NM_016816.4 | |
| PARN | C | 99.85 | 99.98 | NM_002582.4 | |
| PEPD | C | 99.98 | 100.00 | NM_000285.4 | |
| PLCG2 | C | 100.00 | 100.00 | NM_002661.5 | |
| PSAP | C | 100.00 | 100.00 | NM_002778.4 | |
| RASGRP1 | C | 100.00 | 100.00 | NM_005739.4 | |
| RNF168 | C | 100.00 | 100.00 | NM_152617.4 | |
| RTEL1 | C | 100.00 | 100.00 | NM_001283009.2 | |
| SFTPA1 | C | 99.99 | 100.00 | NM_005411.5 | |
| SFTPA2 | C | 99.96 | 100.00 | NM_001098668.4 | |
| SFTPB | C | 100.00 | 100.00 | NM_000542.5 | |
| SFTPC | C | 99.99 | 100.00 | NM_001317778.2 | |
| SLC34A2 | C | 100.00 | 100.00 | NM_006424.3 | |
| SLC7A7 | C | 100.00 | 100.00 | NM_003982.4 | |
| SMPD1 | C | 100.00 | 100.00 | NM_000543.5 | |
| STAT3 | C | 99.98 | 100.00 | NM_139276.3 | |
| STING1 | C | 100.00 | 100.00 | NM_198282.4 | |
| STRA6 | C | 100.00 | 100.00 | NM_022369.4 | |
| TBX4 | C | 100.00 | 100.00 | NM_001321120.2 | |
| TERC | C | NR_001566 | |||
| TERT | C | 100.00 | 100.00 | NM_198253.3 | |
| TINF2 | C | 100.00 | 100.00 | NM_001099274.3 | |
| UBA1 | C | 99.99 | 100.00 | NM_003334.4 | |
| USB1 | C | 100.00 | 100.00 | NM_024598.4 | |
| ZCCHC8 | C | 100.00 | 100.00 | NM_017612.5 |
| Indicatie(s) |
|---|
| Interstitiële longziekten |
** 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