Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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:
81479x1
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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