Alstrom syndrome other diagnostic studies
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Alstrom syndrome Microchapters |
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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]
Overview
The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene, which may be available in some laboratories. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances.
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-gene deletions |
Sensitivity and specificity of the above test are 96% and 100% respectively. Given the current detection rate, failure to identify a disease-causing sequence variant does not preclude the diagnosis of Alström syndrome.