Primary Ciliary Dyskinesia Report
Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare condition characterised by chronic respiratory tract infections, abnormal positioning of internal organs and infertility. The clinical picture is determined by abnormalities in cilia and flagella, which are located in the lining of the airways, the reproductive system and other organs and tissues. Primary ciliary dyskinesia is caused by mutations in several genes; mutations in the DNAI1 and DNAH5 genes account for approximately 30 per cent of all cases.
50 genes analyzed
It is recommended if:
This test may be indicated for those with a family history of Primary Ciliary Dyskinesia. Patients with congestion, situs inversus and frequent sinus and ear infections may also benefit. Genetic testing can help in diagnosis and in providing information on risks for other family members.
List of main conditions:
- Ciliary dyskinesia, primary, 1, with or without situs inversus
- Ciliary dyskinesia, primary, 2
- Ciliary dyskinesia, primary, 9, with or without situs inversus
- Ciliary dyskinesia, primary, 36, X-linked
Simple workflow
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FAQs
How will my data be used?
Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.
How can my doctor use the results?
You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you.
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*Raw data will be available free of charge for the first 30 days after release.
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