Urea Cycle Disorders

Forms and Documents

Test Details

ACADM, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, PC, PCCA, PCCB, PDHA1, PIGA, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70
  • 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

Ordering

T010
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x3; 81405x2; 81406x2
No
Yes
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.

References

  1. Haberle, J. (2011) Eur J Pediatr 170:21-34.
  2. 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.
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol
  4. Bennett S.(2004) Pharmacogenomics 5:433-8.
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
  7. Desviat et al., (2009) Mol Genet Metab 96:171-176.