| Panel naam | NGS Primaire ciliaire dyskinesie PCD |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | AUMC_PCDv4 |
| Panel kwaliteit *** | C |
| Core-NL | 2 core-NL genen inbegrepen |
| CNV analyse | Nee |
| Notitie | incl. founder mutatie NM_144577.3(CCDC114):c.742G>A p.Ala248fs) |
| Locatie | Locatie AMC |
| Genen (46) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| CCDC103 | C | 100.00 | 100.00 | NM_213607.3 | |
| CCDC39 | C | 100.00 | 100.00 | NM_181426.2 | |
| CCDC40 | C | 100.00 | 100.00 | NM_017950.4 | |
| CCDC65 | C | 99.82 | 99.98 | NM_033124.5 | |
| CCNO | C | 100.00 | 100.00 | NM_021147.5 | |
| CFAP298 | C | 99.96 | 100.00 | NM_021254.4 | |
| CFAP300 | C | 99.98 | 100.00 | NM_032930.3 | |
| CFAP57 | C | 99.67 | 99.99 | NM_001378189.1 | |
| CFAP74 | C | 100.00 | 100.00 | NM_001304360.2 | |
| DNAAF1 | C | 100.00 | 100.00 | NM_178452.6 | |
| DNAAF11 | C | 100.00 | 100.00 | NM_012472.6 | |
| DNAAF2 | C | 100.00 | 100.00 | NM_018139.3 | |
| DNAAF3 | C | 100.00 | 100.00 | NM_001256715.2 | |
| DNAAF4 | C | 100.00 | 100.00 | NM_130810.4 | |
| DNAAF5 | C | 99.64 | 99.93 | NM_017802.4 | |
| DNAAF6 | C | 99.96 | 100.00 | NM_173494.2 | |
| DNAH1 | C | 100.00 | 100.00 | NM_015512.5 | |
| DNAH11 | C | 100.00 | 100.00 | NM_001277115.2 | |
| DNAH5 | C | 100.00 | 100.00 | core-NL | NM_001369.3 |
| DNAH8 | C | 100.00 | 100.00 | NM_001206927.2 | |
| DNAH9 | C | 100.00 | 100.00 | NM_001372.4 | |
| DNAI1 | C | 100.00 | 100.00 | core-NL | NM_012144.4 |
| DNAI2 | C | 99.97 | 100.00 | NM_023036.6 | |
| DNAJB13 | C | 99.98 | 100.00 | NM_153614.4 | |
| DNAL1 | C | 100.00 | 100.00 | NM_031427.4 | |
| DRC1 | C | 100.00 | 100.00 | NM_145038.5 | |
| GAS2L2 | C | 100.00 | 100.00 | NM_139285.4 | |
| GAS8 | C | 99.98 | 99.98 | NM_001481.3 | |
| HYDIN | C | 97.96 | 98.64 | NM_001270974.2 | |
| LRRC56 | C | 99.97 | 100.00 | NM_198075.4 | |
| MCIDAS | C | 100.00 | 100.00 | NM_001190787.3 | |
| NME8 | C | 100.00 | 100.00 | NM_016616.5 | |
| ODAD1 | C | 96.47 | 96.47 | NM_001364171.2 (incl. founder mutatie c.742G>A p.Ala248fs) | |
| ODAD2 | C | 98.98 | 99.69 | NM_018076.5 | |
| ODAD3 | C | 100.00 | 100.00 | NM_145045.5 | |
| ODAD4 | C | 95.76 | 97.06 | NM_031421.5 | |
| OFD1 | C | 99.98 | 100.00 | NM_003611.3 | |
| RPGR | C | 88.06 | 90.29 | NM_001034853.2 | |
| RSPH1 | C | 99.99 | 100.00 | NM_080860.4 | |
| RSPH3 | C | 100.00 | 100.00 | NM_031924.8 | |
| RSPH4A | C | 100.00 | 100.00 | NM_001010892.3 | |
| RSPH9 | C | 100.00 | 100.00 | NM_152732.5 | |
| SPAG1 | C | 99.97 | 100.00 | NM_003114.5 | |
| STK36 | C | 100.00 | 100.00 | NM_015690.5 | |
| TTC12 | C | 100.00 | 100.00 | NM_017868.4 | |
| ZMYND10 | C | 100.00 | 100.00 | NM_015896.4 |
| Indicatie(s) |
|---|
| Primaire ciliaire dyskinesie PCD |
** 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