Test #Test Name
3004424Biotinidase Deficiency (BTD) Sequencing
2011157Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication
3001851Fatty Acid Oxidation Disorders Panel, Sequencing
3001648Gaucher Disease (GBA) Sequencing
3004457Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing
3001627Glycogen Storage Disorders Panel, Sequencing
3001593MODY and Neonatal Diabetes Panel, Sequencing
3001607Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing
2012015Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication
3001613Stickler Syndrome Panel, Sequencing
3004419Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication
3004411Wilson Disease (ATP7B) Sequencing