Test Catalog

Test ID: MHDZ    
Methylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of diagnosis of disorders belonging to the cblD complementation group


Distinguishing between cblC, cblD, and cblF types when methylmalonic aciduria and homocystinuria are identified


Distinguishing between cblA, cblB, and cblD variant 2 when methylmalonic aciduria is identified


Distinguishing between cblD variant 1, cblE, and cblG when homocystinuria is identified


Carrier screening in cases where there is a family history of methylmalonic aciduria or homocystinuria, but disease-causing mutations have not been identified in an affected individual

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

MMADHC Gene, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Cobalamin D
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)