Metabolic Disorders and Newborn Screening

  

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