Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 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)
- 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.
- Al-Sayed et al., (2006) BMC Med Genet 7:86
- Cardoso et al., (2004) Mol Genet Metab 82:334-338
- Muroi et al., (2000) Hum Genet 107:320-326
- Menao et al., (2009) Hum Mutat 30:E520-9
- Pie et al., (2007) Mol Genet Metab 92:198-209