Forms and Documents
Test Details
Expand Genes
PTS
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
Ordering
380
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81479x1
No
Yes
- 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
For price inquiries please email zebras@genedx.com
**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.
**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.
References
- Shintaku (2002) Curr Drug Metab 3:123-131
- Longo (2009) J Inher Metab Dis 32:333-342
- Scherer-Oppliger et al., (1999) Hum Mutat 13:286-289
- Blau et al., (2000) Hum Mutat 16:54-60
- Liu et al., (2001) Clin Chim Acta 313:157-169
- Thony et al., (1994) Am J Hum Genet 54:782-792
- Oppliger et al., (1995) J Biol Chem 270:29498-29506
- Kluge et al., (1996) Eur J Biochem 240:477-484
- Opppliger et al., (1997) Hum Mutat 10:25-35
- Romstad et al., (1999) Clin Chem 45:2102-2108
- Dudesek et al., (2001) Eur J Pediatr 160:267-276
- BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online) (http://www.biopku.org/BioPKU_DatabasesBIOMDB.asp) curated by N. Blau, Beat Thöny
- Thony and Blau (2006) Hum Mutat 27:870-878
- Leuzzi et al., (2010) Clin Genet 77:249-257