Test ID: MAHKM
Methylmalonic Aciduria and Homocystinuria, cblC Type, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnostic confirmation of methylmalonic aciduria and homocystinuria, cblC type when familial mutations have been previously identified
Carrier screening of at-risk individuals when a mutation in the MMACHC gene has been identified in an affected family member
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 | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FBC | 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| AFC | 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Note: This testing algorithm only applies to prenatal testing.
If chorionic villus specimen (non-confluent cultured cells) or skin biopsy specimen is received, fibroblast culture for genetic test will be added and charged separately.
If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/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
MAHKM/89135: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
FBC/80333, AFC/80334: 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
Aliases Lists additional common names for a test, as an aid in searching
Cobalamin C
Homocystinuria
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)
MMACHC
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