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