Alstrom syndrome other diagnostic studies: Difference between revisions
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Created page with "__NOTOC__ {{Alstrom syndrome}} {{CMG}}, {{AE}} {{AN}}; {{RT}} ==Other Diagnostic Studies== ===Molecular Genetic Testing=== {| class="wikitable" border="2" |-style="background..." |
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| '''Gene''' || '''Testing Method''' || '''Detected Mutations''' | | '''Gene''' || '''Testing Method''' || '''Detected Mutations''' | ||
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| ALMS1 || Targeted mutation analysis || 19-bp insertion exon 16 | | ALMS1 || Targeted mutation analysis || 19-bp insertion exon 16 | ||
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| ALMS1 || Sequence analysis of select exons: 16, 10, and 8 || Sequence variants | | ALMS1 || Sequence analysis of select exons: 16, 10, and 8 || Sequence variants | ||
|-style="background:white; color:black" | |-style="background:white; color:black" | ||
| ALMS1 || Sequence analysis of entire coding region || Sequence variants | | ALMS1 || Sequence analysis of entire coding region || Sequence variants | ||
|-style="background:white; color:black" | |-style="background:white; color:black" | ||
| ALMS1 || Deletion / duplication analysis || Exonic and whole-genedeletions | | ALMS1 || Deletion / duplication analysis || Exonic and whole-genedeletions | ||
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Revision as of 15:27, 22 February 2013
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Alstrom syndrome Microchapters |
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Alstrom syndrome other diagnostic studies On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]
Other Diagnostic Studies
Molecular Genetic Testing
| Gene | Testing Method | Detected Mutations |
| ALMS1 | Targeted mutation analysis | 19-bp insertion exon 16 |
| ALMS1 | Sequence analysis of select exons: 16, 10, and 8 | Sequence variants |
| ALMS1 | Sequence analysis of entire coding region | Sequence variants |
| ALMS1 | Deletion / duplication analysis | Exonic and whole-genedeletions |