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Cystic fibrosis in a Sri Lankan infant, confirmed by genotyping: implications for future diagnosis and service provision

Authors:

G.A.M. Kularatnam ,

Lady Ridgeway Hospital for Children, LK
About G.A.M.
Senior Registrar in Chemical Pathology
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D. Warawita,

Lady Ridgeway Hospital for Children, LK
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S. Jayasena,

Lady Ridgeway Hospital for Children, LK
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S. Nadarajah,

Lady Ridgeway Hospital for Children, LK
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E. Jasinge,

Lady Ridgeway Hospital for Children, LK
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D. Mendis,

Lady Ridgeway Hospital for Children, LK
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H. Kennedy,

Canterbury Health Laboratories, Christchurch, NZ
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C. Florkowski,

Canterbury Health Laboratories, Christchurch, NZ
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P. George

Canterbury Health Laboratories, Christchurch, NZ
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Abstract

Cystic fibrosis (CF) is an autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7(7q31.2). The diagnosis is usually made clinically, supported by raised sweat chloride, although genotyping provides definitive confirmation and enables genetic counselling.

Journal of the Postgraduate Institute of Medicine 2015;2:E17:1-3

How to Cite: Kularatnam, G.A.M. et al., (2015). Cystic fibrosis in a Sri Lankan infant, confirmed by genotyping: implications for future diagnosis and service provision. Journal of the Postgraduate Institute of Medicine. 2, pp.E17:1–E17:3. DOI: http://doi.org/10.4038/jpgim.8046
Published on 27 Jul 2015.
Peer Reviewed

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