Primary Ciliary Dyskinesia Precision Panel – 50 genes

Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions.

Overview

Indication

Overview

Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions. This defect also has an impact in sperm flagella, generating living but immotile spermatozoa and making patients infertile.
The most common defects causing this disease are found in any polypeptide within the axoneme of cilia, in proteins present in the ciliary membrane and matrix, or in proteins needed for the proper assembly of cilia. Depending on the component missing or defective, different clinical manifestations may develop, being the symptoms and disease onset dependent on the underlying genetic defect. Some mutations result in abnormal ultrastructure, while others cause abnormal function but preserved structure. Since nodal cilia are also defective in embryos, body asymmetry occurs randomly so that approximately 50 percent of the patients have situs inversus totalis. The mode of inheritance is mainly autosomal recessive.
The Igenomix Primary Ciliary Dyskinesia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

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:

Respiratory distress
Rhinosinusitis
Situs inversus
Frequent otitis media
Fatigue and headaches
Decreased fertility or infertility

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment including pharmacological treatment in form of mucolytic agents and antibiotics to deal with frequent infections and exacerbations. Daily chest physiotherapy is commonly used to help reduce the microbial load. Surgical intervention in form of bilateral lung transplantation is also an option for patients with end-stage respiratory insufficiency.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes & diseases

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

Methodology

References

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Primary Ciliary Dyskinesia Precision Panel – 50 genes

Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROŞÜR

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