Diagnosis of Alstrom syndrome


Genetic testing of the ALMS1 gene is available for Alstrom syndrome. Although genetic testing is not necessary to make a diagnosis of Alstrom syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in both copies of the ALMS1 gene of an individual suspected to have Alstrom syndrome, it does not rule out the diagnosis.[4] Last updated: 6/14/2016

Alstrom syndrome is diagnosed based on clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis can be complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alstrom syndrome, although it can be useful to confirm a diagnosis.[4, 2]

A table listing diagnostic criteria categorized by age is available through GeneReviews. Last updated: 6/14/2016

Source: GARD (NIH)1

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  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5787/ alstrom-syndrome

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