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UChicago Genetic Testing
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4 weeks
Oculodentodigital Dysplasia Testing (GJA1)
Oral-facial-digital Syndrome Testing (OFD1)
Rhizomelic Chondrodysplasia Punctata Panel
Robert Syndrome Testing (ESCO2)
Schinzel-Giedion Syndrome Testing (SETBP1)
SHORT Syndrome Testing (PIK3R1)
Single Gene Analysis
Targeted Deletion/Duplication Analysis (MLPA or qPCR)
Temple-Baraitser Syndrome Testing (KCNH1)
Thiamine Responsive Megaloblastic Anemia (TRMA) Testing (SLC19A2)
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