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University of Chicago Genetic Services Laboratories
UChicago Genetic Testing
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81479

Bernard-Soulier Syndrome Testing (GPIbβ)
2-Hydroxyglutaric Aciduria Panel
46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Aniridia Testing (PAX6)
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
CHILD Syndrome Testing (NSDHL)
CHIME Syndrome Testing (PIGL)
Coffin Siris Syndrome Panel
Currarino Syndrome Testing (MNX1)
Diamond Blackfan Anemia Panel
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Department of Human Genetics