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MMACHC Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MMACHC
Disorders:
Clinical Utility:
  • Confirmation of a biochemical/clinical diagnosis
  • Carrier testing
  • 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:
  • 270.4: Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
  • 270.9: Unspecified disorder of amino-acid metabolism
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
  2. Rosenblatt, DS et al. (1985) Science 28:1319-1321
  3. Rosenblatt, DS and Fenton, WA (2001) Inherited disorders of folate and cobalamin transport and metabolism . In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds)The Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY
  4. Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100

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