Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. It is also known by the acronym of the key features of the disorder: DIDMOAD. Wolfram syndrome has been associated with mutations in both the WFS1 and CISD2 genes. Additional clinical findings may include renal abnormalities, ataxia, dementia, intellectual disability, and psychiatric illness. The minimal criteria for diagnosing Wolfram syndrome are juvenile onset diabetes mellitus and optic atrophy. Heterozygous pathogenic variants in WFS1 have been reported to be associated with low-frequency non-syndromic deafness, neonatal diabetes, and adult-onset diabetes. This panel includes sequence and deletion/duplication analysis of the listed genes. 

Institutional Price 
$2,000.00
TAT 
4 weeks
CPT Code 
81479
Test Code 
2167
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 
Additional Information 
Either gene in the Wolfram Syndrome Panel can also be ordered individually. Please contact us directly for cost and CPT code information.