MMAA Gene Sequencing

Forms and Documents

Test Details

MMAA
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

276
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43