Test ID: MCDMS
MLYCD Gene, Full Gene Analysis
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
89830
Useful For
Suggests clinical disorders or settings where the test may be helpful
Confirmation of diagnosis of malonyl-CoA decarboxylase deficiency
Carrier screening in cases where there is a family history of malonyl-CoA decarboxylase deficiency, 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 | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FBC | 80333 | Fibroblast Culture for Genetic Test | Yes | No |
Additional Tests
Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Test Number | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| MCDDB | 89861 | MLYCD Large Del/Dup, MLPA | No | Yes |
Testing Algorithm
Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, MLYCD large deletion/duplication testing will always be performed at an additional charge.
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
MCDMS/89830, MCDDB/89861: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
FBC/80333: Cell Culture
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
MLYCD Gene, Full Gene Analysis
Aliases
Lists additional common names for a test, as an aid in searching
Malonic Aciduria
Malonyl-CoA Decarboxylase Deficiency
MCD Deficiency
Malonyl-CoA Decarboxylase Deficiency
MCD Deficiency


