The Igenomix Primary Ciliary Dyskinesia Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
The clinical utility of this panel is:
| GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | CLINVAR** | HGMD** |
| CCDC103 | Primary Ciliary Dyskinesia |
AR |
99.92 |
4 of 4 | 6 of 6 |
| CCDC39 | Primary Ciliary Dyskinesia |
AR |
99.56 |
30 of 36 | 48 of 52 |
| CCDC40 | Primary Ciliary Dyskinesia |
AR |
98 |
35 of 35 | 50 of 50 |
| CCDC65 | Primary Ciliary Dyskinesia |
AR |
99.98 |
4 of 4 | 3 of 3 |
| CCNO | Primary Ciliary Dyskinesia |
AR |
99.94 |
19 of 19 | 12 of 12 |
| CENPF | Stromme Syndrome |
AR |
98.83 |
15 of 18 | 10 of 12 |
| CFAP221 | Primary Ciliary Dyskinesia |
– |
89.78 |
– | – |
| CFAP298 | Primary Ciliary Dyskinesia |
AR |
– |
– | – |
| CFAP300 | Primary Ciliary Dyskinesia |
AR |
– |
– | – |
| DNAAF1 | Primary Ciliary Dyskinesia |
AR |
99.55 |
17 of 17 | 36 of 37 |
| DNAAF11 | Primary Ciliary Dyskinesia |
AR |
99.88 |
14 of 14 | 21 of 21 |
| DNAAF2 | Primary Ciliary Dyskinesia |
AR |
97.45 |
15 of 15 | 7 of 8 |
| DNAAF3 | Primary Ciliary Dyskinesia |
AR |
98.95 |
14 of 15 | 13 of 14 |
| DNAAF4 | Primary Ciliary Dyskinesia |
AD,AR |
99.27 |
– | – |
| DNAAF5 | Primary Ciliary Dyskinesia |
AR |
89.27 |
– | – |
| DNAAF6 | Primary Ciliary Dyskinesia |
X,XR,G |
99.63 |
– | – |
| DNAH1 | Spermatogenic Failure, Primary Ciliary Dyskinesia |
AR |
100 |
17 of 17 | 58 of 58 |
| DNAH11 | Primary Ciliary Dyskinesia |
AR |
99.27 |
87 of 90 | 159 of 169 |
| DNAH5 | Primary Ciliary Dyskinesia, Situs Inversus |
AR |
100 |
188 of 188 | 277 of 278 |
| DNAH8 | Spermatogenic Failure |
AR |
99.75 |
24 of 25 | 12 of 12 |
| DNAH9 | Primary Ciliary Dyskinesia |
AR |
98.86 |
7 of 7 | 19 of 19 |
| DNAI1 | Kartagener Syndrome, Primary Ciliary Dyskinesia |
AR |
96.91 |
20 of 20 | 43 of 43 |
| DNAI2 | Primary Ciliary Dyskinesia, Situs Inversus |
AR |
98.89 |
25 of 25 | 8 of 8 |
| DNAJB13 | Primary Ciliary Dyskinesia |
AR |
99.94 |
2 of 2 | 3 of 3 |
| DNAL1 | Primary Ciliary Dyskinesia |
AR |
99.43 |
4 of 4 | 5 of 5 |
| DRC1 | Primary Ciliary Dyskinesia |
AR |
100 |
5 of 5 | 9 of 9 |
| FOXJ1 | Primary Ciliary Dyskinesia |
AD |
99.69 |
4 of 4 | 5 of 5 |
| GAS2L2 | Primary Ciliary Dyskinesia |
AR |
89 |
1 of 1 | 4 of 5 |
| GAS8 | Primary Ciliary Dyskinesia |
AR |
99.98 |
4 of 4 | 6 of 6 |
| HYDIN | Primary Ciliary Dyskinesia |
AR |
81.7 |
3 of 6 | 45 of 63 |
| INVS | Nephronophthisis, Senior-Loken Syndrome |
AR |
99.9 |
21 of 21 | 38 of 38 |
| LRRC56 | Primary Ciliary Dyskinesia |
AR |
99.77 |
4 of 4 | 5 of 5 |
| MCIDAS | Primary Ciliary Dyskinesia |
AR |
99.92 |
6 of 6 | 4 of 4 |
| NEK10 | Primary Ciliary Dyskinesia |
AR |
99.95 |
4 of 4 | 3 of 3 |
| NME8 | Primary Ciliary Dyskinesia |
AR |
99.99 |
1 of 1 | 9 of 9 |
| ODAD1 | Primary Ciliary Dyskinesia |
AR |
99.68 |
7 of 9 | 10 of 10 |
| ODAD2 | Primary Ciliary Dyskinesia |
AR |
97.3 |
19 of 20 | 26 of 28 |
| ODAD3 | Primary Ciliary Dyskinesia |
AR |
95 |
10 of 10 | 4 of 4 |
| ODAD4 | Primary Ciliary Dyskinesia |
AR |
– |
– | – |
| OFD1 | Primary Ciliary Dyskinesia |
X,XR,XD,G |
98.09 |
– | – |
| RPGR | Primary Ciliary Dyskinesia |
X,XR,G |
94 |
– | – |
| RSPH1 | Primary Ciliary Dyskinesia |
AR |
100 |
14 of 14 | 10 of 10 |
| RSPH3 | Primary Ciliary Dyskinesia |
AR |
99.85 |
9 of 9 | 5 of 5 |
| RSPH4A | Primary Ciliary Dyskinesia |
AR |
99.98 |
23 of 23 | 27 of 27 |
| RSPH9 | Primary Ciliary Dyskinesia |
AR |
100 |
9 of 9 | 13 of 13 |
| SPAG1 | Primary Ciliary Dyskinesia |
AR |
94.8 |
16 of 17 | 11 of 12 |
| SPEF2 | Spermatogenic Failure, Primary Ciliary Dyskinesia |
AR |
99.6 |
6 of 7 |
10 of 13 |
| STK36 | Primary Ciliary Dyskinesia |
– |
100 |
– | 5 of 5 |
| TTC12 | Primary Ciliary Dyskinesia |
AR |
99.97 |
4 of 4 |
– |
| ZMYND10 | Primary Ciliary Dyskinesia |
AR |
99.98 |
9 of 9 |
16 of 16 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to HGMD
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