Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene
ALG3
N/A
Who is this test for? | Candidates for this test include individuals with clinical symptoms consistent with CDG Id, patients with demonstrated Dol-P-Man:Man<sub>5</sub>GlcNAc<sub>2</sub>-PP-Dol mannosyltransferase deficiency (and/or accumulation of the enzymatic substrate), or individuals with a disialylated transferrin isoform that is apparently smaller than the control serum transferrin (Körner et al. 1999. PubMed ID: 10581255). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ALG3. |
Method | Sanger Sequencing |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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