Test ID: MAHMS
Methylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
89436
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
Useful For Suggests clinical disorders or settings where the test may be helpful
Confirmation of diagnosis of methylmalonic aciduria and homocystinuria, cblC type
Distinguishing between cblC, cblD, and cblF types when methylmalonic aciduria and homocystinuria are identified
Carrier screening in cases where there is a family history of methylmalonic aciduria and homocystinuria, but disease causing mutations have not been identified in an affected individual
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
MAHMS/89436: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
FBC/80333: Cell Culture
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
MMACHC Gene, Full Gene Analysis
Aliases Lists additional common names for a test, as an aid in searching
cblC
Cobalamin C
Homocystinuria
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)
MMACHC
Cobalamin C
Homocystinuria
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)
MMACHC
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