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NGS Primary ciliary dyskinesia PCD

Panel name NGS Primary ciliary dyskinesia PCD
Panel method WES-based NGS
Panel version ** v3
Panel quality *** A/C
Core-NL 2 core-NL genes included
CNV analysis No
Note incl. founder mutatie NM_144577.3(CCDC114):c.742G>A p.Ala248fs)
Location Location AMC
Genes (39) Quality % coverage >30 % coverage >20 Core-NL Note
ARMC4 C 96.4
CCDC103 C 100.0
CCDC114 C 100.0 incl. founder mutatie c.742G>A p.Ala248fs
CCDC151 C 95.7
CCDC39 C 97.6
CCDC40 C 100.0
CCDC65 C 93.7
CCNO C 100.0
CFAP298 C 92.4
DNAAF1 C 99.9
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
LRRC6 C 98.8
MCIDAS C 99.4
NME8 C 93.0
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
TTC25 C 98.6
ZMYND10 C 99.0
Indication(s)
Ciliary dyskinesia

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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