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UChicago Genetic Testing
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Congenital Malformations
A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).
Albinism Panel
Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: Perspectives of the Molecular Diagnostic Laboratory.
Aniridia Testing (PAX6)
Bardet-Biedl Syndrome Panel
CHARGE Syndrome Testing (CHD7)
CHILD Syndrome Testing (NSDHL)
CHIME Syndrome Testing (PIGL)
Coffin Siris Syndrome Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
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