Test Catalog

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Test ID: MHCZ    
Methylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis

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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 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.

Yes

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

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
MAHMS