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Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type

Methylmalonic aciduria and homocystinuria, cblC type, is a defect in B12 metabolism. Patients may present with severe early onset disease that includes megaloblastic and macrocytic anemia and failure to thrive, microcephaly, lethargy and feeding difficulties. Neurologic symptoms may include hypotonia, seizures, developmental delay, ataxia and optic atrophy. Late onset cases may present with neurologic symptoms [...]

+ Mutation-specific testing   + Prenatal testing

Methylmalonic aciduria and homocystinuria, cblC type, is a defect in B12 metabolism. Patients may present with severe early onset disease that includes megaloblastic and macrocytic anemia and failure to thrive, microcephaly, lethargy and feeding difficulties. Neurologic symptoms may include hypotonia, seizures, developmental delay, ataxia and optic atrophy. Late onset cases may present with neurologic symptoms such as anorexia, irritability, fatigue, myelopathy or dementia. Other complications are mental retardation, microcephaly, retinal degeneration, pigmentary retinopathy, microangiopathy and skin lesions.

+ Mutation-specific testing   + Prenatal testing

Tests Available

MMACHC Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MMACHC
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
List Price:
$700.00
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

  1. 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
  2. Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
  3. Rosenblatt, DS et al. (1985) Science 28:1319-1321
  4. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081

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