Test Code 15421
Congenital Myopathy via the HACD1 Gene
HACD1
N/A
Who is this test for? | Candidates for this test are patients with clinical features consistent with a congenital myopathy. Targeted testing is indicated for family members of patients who have a known pathogenic variant in HACD1. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HACD1. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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