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

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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