Primary Ciliary Dyskinesia NGS panel

Published 21/08/2019

Primary Ciliary Dyskinesia NGS panel

Genes
(full coding
region):		 ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Primary Ciliary Dyskinesia NGS panel

Published 12/12/2018

Primary Ciliary Dyskinesia NGS panel

Genes
(full coding
region):		 ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Primary Ciliary Dyskinesia NGS panel

Published 12/12/2018

List of diseases covered by
Primary Ciliary Dyskinesia NGS panel

Gene Condition
ARMC4 Ciliary dyskinesia, primary, 23
CCDC103 Ciliary dyskinesia, primary, 17
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary, 30
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
CCNO Ciliary dyskinesia, primary, 29
CENPF Stromme syndrome
CFAP298 Ciliary dyskinesia, primary, 26
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAAF3 Ciliary dyskinesia, primary, 2
DNAAF4 Ciliary dyskinesia, primary, 25
DNAAF5 Ciliary dyskinesia, primary, 18
DNAH1 Ciliary dyskinesia, primary, 37
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH8 Ciliary dyskinesia
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus
DNAL1 Ciliary dyskinesia, primary, 16
DRC1 Ciliary dyskinesia, primary, 21
GAS8 Ciliary dyskinesia, primary, 33
LRRC6 Ciliary dyskinesia, primary, 19
MCIDAS Ciliary dyskinesia
NME8 Ciliary dyskinesia, primary, 6
PIH1D3 Ciliary dyskinesia, primary, 36, X-linked
RPGR Ciliary dyskinesia; Retinitis pigmentosa 3;
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness
RSPH1 Ciliary dyskinesia, primary, 24
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
SPAG1 Ciliary dyskinesia, primary, 28
ZMYND10 Ciliary dyskinesia, primary, 22