Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 796.6 Abnormal findings on neonatal screening
- 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
**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.
- Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
- Quental et al., (2008) Mol Genet Metab 94:148-156
- Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
- Nellis et al., (2003) Mol Genet Metab 80:189-195
- Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
- Henneke et al., (2003) Hum Mutat 22:417