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.
- 796.6 Abnormal findings on neonatal screening
- 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
**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.
- Natt et al., (1987) Hum Genet 77:352-358.
- Natt et al., (1992) Proc Natl Acad Sci 89:9297-9301.
- Huhn et al., (1998) Hum Genet 102:305-313.
- Maydan et al., (2006) J Inherit Metab Dis 29:620-626.
- Charfeddine et al., (2006) Mol Genet Metab 88:184-191.