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UChicago Genetic Testing
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4 weeks
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)
Tier 2: SLC16A2 (MCT8) Mutation Analysis (Allan-Herndon-Dudley syndrome)
Type A Insulin Resistant Diabetes with Acanthosis Nigricans Testing (INSR)
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