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) |
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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