Alström syndrome
Analysis ID 248
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Alström syndrome
OMIM 203800
Clinical information Alstrom syndrome is an autosomal recessive disorder characterized by a progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes ALMS1
Analysis description Sequencing of exon 10 and 16 of the ALMS1 gene
Analysis indication Symptoms of Alström syndrome
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders