Test Code 993
Alport Syndrome via the COL4A4 Gene
COL4A4
N/A
Who is this test for? | Candidates for this test are patients with symptoms consistent with autosomal dominant, autosomal recessive Alport syndrome, and the family members of patients who have known COL4A4 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in COL4A4. |
Method | Sanger Sequencing |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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