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

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 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 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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

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

MHDMS: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

FBC: 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

MMADHC Gene, Full Gene Analysis

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

Cobalamin D
Homocystinuria
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)
MMADHC
cblD