Forms and Documents
- Molecular confirmation of a clinical diagnosis
- Testing of patients suspected of having a urea cycle disorder, transporter defect or unexplained hyperammonemia
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Haberle, J. (2011) Eur J Pediatr 170:21-34.
- Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011.
- Auron, A.and Brophy, P. (2011) Pediatr Nephrol
- Bennett S.(2004) Pharmacogenomics 5:433-8.
- Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
- Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
- Desviat et al., (2009) Mol Genet Metab 96:171-176.