Rochester Test Catalog
- 15q Duplication Syndrome
- 17p Deletion
- 17p11.2 Deletion
- 17p13.3 Deletion
- 17q11.2 Deletion
- 1p-/19q-in Glioma
- 1p36 Deletion Syndrome
- 2 Methylbutyryl-CoA Dehydrogenase Deficiency
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency
- 2-Methylbutyrylglycinuria
- 22q Deletion
- 22q Duplication
- 3-Hydroxy-3-Methylglutaryl-CoA Carboxylase Deficiency
- 3-Methylcrotonyl Carboxylase Deficiency
- 3-Methylcrotonylglycinuria
- 3-Methylglutaconic Aciduria I
- 3-Methylglutaconyl-CoA Hydratase Deficiency
- 45,X Turner Syndrome Mosaicism
- 4p Deletion
- 5p Deletion
- 7q11.23 Deletion
- 9;22 Translocation
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