Test Code 9505
Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene
ACADM
N/A
Who is this test for? | Newborns suspected to have MCADD based on clinical features or by tandem mass spectroscopy findings. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACADM. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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