Test Code 9477
Systemic Primary Carnitine Deficiency via the SLC22A5 Gene
SLC22A5
N/A
Who is this test for? | Patients with positive newborn screen results for carnitine deficiency as well as those with clinical and biochemical test results consistent with SPCD are good candidates for this test. Family members of patients who have known SLC22A5 pathogenic variants are also good candidates. We will also sequence the SLC22A5 gene to determine carrier status. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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