MUT Exon 2 Sequencing

Forms and Documents

Test Details

MUT
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2753
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81479x1
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. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  2. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  3. Worgan, LC et al., (2006) Hum Mut 27:31-43
  4. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  5. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  6. Merinero et al., (2008) J Inherit Metab Dis 31:55-66