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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T011
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1; 81405x2; 81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

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.