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.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
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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Turnaround time (TAT):
Ref. S-202212148
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.
Alström syndrome
