Test Code 8773
Methylmalonic Aciduria and/or Homocystinuria via the CD320 Gene
CD320
N/A
Who is this test for? | Individuals with elevated methylmalonic acid and no identified defects in other genes known to cause methylmalonic aciduria are good candidates for this test, particularly if they also have elevated C3-acylcarnitine levels, and possibly elevated homocysteine levels. Family members of patients who have known pathogenic CD320 variants are candidates. We will also sequence the CD320 gene to determine carrier status. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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