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.  The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances.
Alstrom syndrome other diagnostic studies
Alstrom syndrome other imaging findings
Paget-Schroetter disease other diagnostic studies
Hamman-Rich syndrome other diagnostic studies
Multiple endocrine neoplasia type 1 risk factors
Pott's disease other diagnostic studies
17-beta-hydroxysteroid dehydrogenase deficiency other imaging findings
Autoimmune polyendocrine syndrome other diagnostic studies