• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Neuromuscular disordersNemaline myopathyCentral core disease Myotubular myopathyACTA1BIN1CFL2CNTN1DNM2 KBTBD13MTM1MYF6MYH7NEBRYR1SEPN1TNNT1TPM2TPM3
  • CPT Code(s):
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Background:

Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. Congenital myopathies are a group of genetic conditions and can be autosomal dominant, recessive or X-linked. Typical clinical manifestations include hypotonia, muscle weakness, and delayed motor developmental milestones. Cardiac conditions and joint dislocations can also be observed. This test includes genes associated with central core disease, nemaline myopathy, and myotubular myopathy.

Reasons for Referral:

  • Abnormal serum creatine kinase levels
  • Delayed movement milestones
  • Muscle weakness with signs of structural abnormalities of myofibers observed in biopsy
  • Abnormal electromyography (EMG)
  • Abnormal nerve conduction studies (NCS)
  • Positive family history (targeted testing is available if familial mutation is known)
  • Carrier testing

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. Exon-centric deletion/duplication analysis (1340) is also available if indicated. 

Congenital Muscular Myopathy Panel (15 genes):
ACTA1, BIN1, CFL2, CNTN1, DNM2, KBTBD13, MTM1, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3 

Methodology:

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References:

  1. Curr Opin Neurol. 2001 Oct;14(5):575-82. GeneReviews

Additional Info: