Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
2104
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

Alstrom syndrome [OMIM#203800] is characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, dilated or restrictive cardiomyopathy and child obesity. Type 2 diabetes mellitus is observed in nearly all patients before the second decade. Renal failure, pulmonary, hepatic, and urologic dysfunction are also often observed. Intelligence is typically normal. Wide clinical variability is observed amongst affected individuals, even within the same family.

Homozygous or compound heterozygous mutations in the ALMS1 [OMIM#606844] gene cause Alström syndrome. ALMS1 is widely expressed in tissues that are affected in patients with Alstrom syndrome, including the central nervous, sensorineural, endocrine, cardiopulmonary, reproductive, and urorenal systems, and the location of ALMS1 to centrosomes suggests roles in intracellular trafficking and ciliary function. The majority of mutations identified to date are nonsense and frameshift that are predicted to cause premature protein truncation.