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MMACHC Gene Sequencing
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:
ORDERING
- Test Code:
- 274
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
-
- 270.9: Unspecified disorder of amino-acid metabolism
- 270.4: Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
REFERENCES
- 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
- Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
- Rosenblatt, DS et al. (1985) Science 28:1319-1321
- Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
