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:
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
Shipment Sensitivity Requirements:
References:
- Curr Opin Neurol. 2001 Oct;14(5):575-82. GeneReviews
Additional Info: