Forms and Documents
Test Details
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Capillary Sequencing
Ordering
Billing
- 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
References
- Nagan, N. et al, (2003) Mol Gen Metab 78:239-246
- Pedersen, CB et al (2003) J Biol Chem 278:47449-47458
- Zytkovicz, T.H. et al, (2001) Clin Chem 47:1945-1955
- van Maldegem, B.T. et al, (2006) JAMA 296:943-952
- Corydon M. J. et al, (2001) Pediatr Res 49: 18-23
- Gregersen N. et al, (2001) Hum Mutat 18:169-189