| Panel naam | NGS Primaire ciliaire dyskinesie PCD |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v3 |
| Panel kwaliteit *** | A/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 (39) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| CCDC103 | C | 100.0 | |||
| CCDC39 | C | 97.6 | |||
| CCDC40 | C | 100.0 | |||
| CCDC65 | C | 93.7 | |||
| CCNO | C | 100.0 | |||
| CFAP298 | C | 92.4 | |||
| DNAAF1 | C | 99.9 | |||
| DNAAF11 | C | 98.8 | |||
| DNAAF2 | C | 100.0 | |||
| DNAAF3 | C | 100.0 | |||
| DNAAF4 | C | 95.8 | |||
| DNAAF5 | C | 99.0 | |||
| DNAAF6 | C | 90.4 | |||
| DNAH1 | C | 99.0 | |||
| DNAH11 | C | 99.7 | |||
| DNAH5 | A | 99.7 | core-NL | ||
| DNAH8 | C | 98.7 | |||
| DNAI1 | A | 99.4 | core-NL | ||
| DNAI2 | C | 100.0 | |||
| DNAJB13 | C | 99.2 | |||
| DNAL1 | C | 98.4 | |||
| DRC1 | C | 95.7 | |||
| GAS8 | C | 99.5 | |||
| HYDIN | C | 100.0 | |||
| MCIDAS | C | 99.4 | |||
| NME8 | C | 93.0 | |||
| ODAD1 | C | 100.0 | incl. founder mutatie c.742G>A p.Ala248fs | ||
| ODAD2 | C | 96.4 | |||
| ODAD3 | C | 95.7 | |||
| ODAD4 | C | 98.6 | |||
| OFD1 | C | 96.9 | |||
| RPGR | C | 84.4 | |||
| RSPH1 | C | 94.9 | |||
| RSPH3 | C | 99.7 | |||
| RSPH4A | C | 100.0 | |||
| RSPH9 | C | 100.0 | |||
| SPAG1 | C | 96.6 | |||
| STK36 | C | 100.0 | |||
| ZMYND10 | C | 99.0 |
| Indicatie(s) |
|---|
| Ciliaire dyskinesie |
** 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