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Test Code 8327

Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene

ACSF3

N/A

Who is this test for?

Individuals with elevated urinary methylmalonic (MMA) and malonic acid (MA), particularly if the level of MMA is higher than the level of MA, are good candidates for this test. Family members of patients who have known ACSF3 pathogenic variants are candidates. We will also sequence the ACSF3 gene to determine carrier status.

Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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