Test Code 8063
Xanthinuria Type II via the MOCOS Gene
MOCOS
N/A
Who is this test for? | Patients with biochemical and/or clinical features consistent with xanthinuria type II, such as xanthinuria, hypoxanthinuria, hypouricemia, and possibly kidney stones, are good candidates for this test. Family members of patients who have known MOCOS pathogenic variants are also good candidates. We will also sequence the MOCOS gene to determine carrier status. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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