Test Code 11435
Nemaline Myopathy 9 via the KLHL41 Gene
KLHL41
N/A
Who is this test for? | Individuals with clinical symptoms consistent with nemaline myopathy and a muscle biopsy with nemaline bodies. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KLHL41. |
Method | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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