Diagnosing primary ciliary dyskinesia
Diagnosing primary ciliary dyskinesia
The National Specialist Commissioning Advisory Group (NSCAG) has funded three centres to establish and provide a national diagnostic service for England for children and adults suspected of suffering from primary ciliary dyskinesia (PCD). This is welcomed, as state of the art diagnostic testing will be available nationally which will increase the numbers of patients diagnosed with a condition in which early diagnosis has a very significant effect on both short-term and long-term morbidity. Inheritance is autosomal recessive with an incidence of around 1:15 000 in the Caucasian population and, as expected, we have found a much higher incidence in ethnic groups where consanguineous marriages are common. Accurate diagnosis will allow appropriate genetic counselling of families.
656-657
O'Callaghan, Christopher
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Chilvers, Mark
86118cb1-8601-4462-9710-28fd572b1dec
Hogg, Claire
78881fd2-dbe9-4c28-b050-3387c163df1e
Bush, Andrew
5cb3546c-87b2-4e59-af48-402076e25313
August 2007
O'Callaghan, Christopher
b985540d-eac0-4308-95d3-ffe156867d45
Chilvers, Mark
86118cb1-8601-4462-9710-28fd572b1dec
Hogg, Claire
78881fd2-dbe9-4c28-b050-3387c163df1e
Bush, Andrew
5cb3546c-87b2-4e59-af48-402076e25313
O'Callaghan, Christopher, Chilvers, Mark, Hogg, Claire and Bush, Andrew
(2007)
Diagnosing primary ciliary dyskinesia.
Thorax, 62 (8), .
(doi:10.1136/thx.2007.083147).
Abstract
The National Specialist Commissioning Advisory Group (NSCAG) has funded three centres to establish and provide a national diagnostic service for England for children and adults suspected of suffering from primary ciliary dyskinesia (PCD). This is welcomed, as state of the art diagnostic testing will be available nationally which will increase the numbers of patients diagnosed with a condition in which early diagnosis has a very significant effect on both short-term and long-term morbidity. Inheritance is autosomal recessive with an incidence of around 1:15 000 in the Caucasian population and, as expected, we have found a much higher incidence in ethnic groups where consanguineous marriages are common. Accurate diagnosis will allow appropriate genetic counselling of families.
Text
Thorax_O'C_Lucas_2007.pdf
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Published date: August 2007
Additional Information:
Editorial: Diagnosing primary ciliary dyskinesia
Identifiers
Local EPrints ID: 59383
URI: http://eprints.soton.ac.uk/id/eprint/59383
ISSN: 0040-6376
PURE UUID: 23907df8-6450-428a-a800-d17635d2c348
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Date deposited: 03 Sep 2008
Last modified: 16 Mar 2024 03:25
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Author:
Christopher O'Callaghan
Author:
Mark Chilvers
Author:
Claire Hogg
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