Alström syndrome [1 gene]

Alström syndrome is a rare multisystem disorder (estimated prevalence of 1/ 1,000,000 in Europe and North America) characterized by cone-rod retinal dystrophy, hearing loss, obesity, insulin resistance, and hyperinsulinemia, diabetes mellitus type 2, dilated cardiomyopathy (DCM) and progressive renal and hepatic dysfunction (ORPHA:64).

1/1,000,000 newborns.

It is recommended to request the study of the ALMS1 gene exclusively when the clinical diagnosis is practically indisputable. Otherwise, it is recommended to consider this disease within the differential diagnosis of other diseases that cause retinal dystrophy and overlapping systemic characteristics, such as Bardet-Biedl syndrome. In this context of clinical suspicion, it is recommended a broader panel, such as the generalized retinal dystrophy panel.

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

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Alström syndrome

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Consentimiento*
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202212148

Updated (dd/mm/yy): 14/10/2025

Alström syndrome: View panel
  • ALMS1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Alström syndrome

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