Cobalamin Metabolism and Related Disorders

Forms and Documents

Test Details

ABCD4, ACSF3, AMN, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having an inborn error of metabolism associated with methylmalonic acidemia and/or hyperhomocysteinemia/homocystinuria
  • As a substitute for complementation analysis
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.

Ordering

T011
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x1; 81405x2; 81406x1, 81479x1
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. Manoli, I. and Venditti, C., (Updated [Sept. 28, 2010]). Methylmalonic Acidemia. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2011.
  2. Adams, D. and Venditti, C., (Updated [August 11, 2009]). Disorders of Intracellular Cobalamin Metabolism. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011.
  3. Miousse et al., (2009) J Pediatr 154:551-556.
  4. Rutsch et al., (2009) Nature Genetics 41:234-239.
  5. Quadros et al., (2010) Hum Mutat 31:924-929.
  6. Bennett S.(2004) Pharmacogenomics 5:433-8.
  7. Worgan, et al., (2006) Hum Mutat 27:31-43.
  8. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516.
  9. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87 :219-225.
  10. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081.
  11. Alfares et al., (2011) J Med Genet 48:602-605.
  12. Sloan et al., (2011) Nat Genet 43:883-886.
  13. Salomons et al., (2007) J Inherit Metab Dis 30:23- 28.