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MMAA Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MMAA
Disorders:
Clinical Utility:
  • 1. Confirmation of a biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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

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