Ataxia telangiectasia other diagnostic studies: Difference between revisions
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== | == Other Diagnostic Studies == | ||
=== Molecular Diagnosis === | |||
=== Molecular | |||
Molecular diagnosis of AT can be carried out by sequencing all 66 exon of the gene or by linkage if there is a significant family history. Protein functionality testing is also available. However AT testing is usually carried out cytogenetically as specific breakpoints and cytogenetic instability are major characteristic features of the disorder. This must be carried out on lymphocytes. 10% of patients with AT show balanced translocations, 2/3rds of which involve the immunoglobulin genes on chromosomes 7 and 14. Some patients show expansions in their immunoglobulin genes which can expand during mitosis resulting in prolymphocyte leukaemia. | Molecular diagnosis of AT can be carried out by sequencing all 66 exon of the gene or by linkage if there is a significant family history. Protein functionality testing is also available. However AT testing is usually carried out cytogenetically as specific breakpoints and cytogenetic instability are major characteristic features of the disorder. This must be carried out on lymphocytes. 10% of patients with AT show balanced translocations, 2/3rds of which involve the immunoglobulin genes on chromosomes 7 and 14. Some patients show expansions in their immunoglobulin genes which can expand during mitosis resulting in prolymphocyte leukaemia. | ||
=== Antenatal | === Antenatal Diagnosis === | ||
Antenatal diagnosis can be carried out using linkage and [[microsatellite]] markers. However, direct gene analysis is more common. | Antenatal diagnosis can be carried out using linkage and [[microsatellite]] markers. However, direct gene analysis is more common. | ||
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== References == | == References == | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Needs overview]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Genetic disorders]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 15:18, 29 November 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Other Diagnostic Studies
Molecular Diagnosis
Molecular diagnosis of AT can be carried out by sequencing all 66 exon of the gene or by linkage if there is a significant family history. Protein functionality testing is also available. However AT testing is usually carried out cytogenetically as specific breakpoints and cytogenetic instability are major characteristic features of the disorder. This must be carried out on lymphocytes. 10% of patients with AT show balanced translocations, 2/3rds of which involve the immunoglobulin genes on chromosomes 7 and 14. Some patients show expansions in their immunoglobulin genes which can expand during mitosis resulting in prolymphocyte leukaemia.
Antenatal Diagnosis
Antenatal diagnosis can be carried out using linkage and microsatellite markers. However, direct gene analysis is more common.