Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Forms and Documents

Test Details

ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, 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
  • Next-Gen Sequencing

Ordering

665
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x3
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 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
* For price inquiries please email zebras@genedx.com

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. Available at http://www.genetests.or
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print]
  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.