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University of Chicago Genetic Services Laboratories
UChicago Genetic Testing
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Goldberg Schprintzen Megacolon Syndrome Testing (KIAA1279)

TAT 
4 weeks
CPT Code 
81479
Test Code 
1204
PDF icon Test Information Sheet
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents 
PDF icon General Requisition Form
Genes 
KIAA1279

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Macrocephaly Panel
A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).
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Department of Human Genetics