4 weeks | The University of Chicago Genetic Services

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)