Test Code 3787
Galactosialidosis via the CTSA Gene
CTSA
N/A
Who is this test for? | This test is appropriate for patients with clinical and biochemical findings consistent with GSL and for carrier testing in relatives of patients with known pathogenic CTSA variants. |
Method | Sanger Sequencing |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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