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University of Chicago Genetic Services Laboratories
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Endocrinology

46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
6q24 Methylation-Specific MLPA
Ambiguous Genitalia Panel
Aniridia Testing (PAX6)
Bardet-Biedl Syndrome Panel
Comprehensive Neonatal Diabetes Mutation Analysis
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.
Dyslipidemia Panel
Endocrinology
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Department of Human Genetics