In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
Urea Cycle Disorders
- Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
- Reflex Del/Dup Testing after Hyperammonemia Panel
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
FORMS AND DOCUMENTS
- ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, TMEM70
- Clinical Utility:
- 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
- Lab Method:
- Next-gen Sequencing
- Test Code:
- Turnaround Time:
- 8-9 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81405x2, 81406x3
- New York Approved:
- ABN Required:
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
- 270.6: Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
- 277.8: Other specified disorders of metabolism
- 796.6: Abnormal findings on neonatal screening
- Haberle, J. (2011) Eur J Pediatr 170:21-34.
- 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. Available at http://www.genetests.org
- Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print]
- Bennett S.(2004) Pharmacogenomics 5:433-8.
- Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
- Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
- Desviat et al., (2009) Mol Genet Metab 96:171-176.