Background:
Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. This neuronal damage in turn causes degradation of the affected muscular tissue causing weakness and loss of muscle tone. Limb-girdle muscular dystrophies are a group of specific neuromuscular disorders that specifically affect the shoulders and pelvic joints. The age of onset can vary even when there is a family history. Limb-girdle muscular dystrophies can be inherited either in an autosomal dominant or recessive pattern and the prevalence ranging between 1:14,500 and 1:123,000.
Reasons for Referral:
- Muscle weakness, especially with targeted in the shoulders and pelvic regions.
- Abnormal muscle biopsy.
- Abnormal serum creatine kinase levels.
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.
Limb-Girdle Muscular Dystrophy Panel (34 genes):
ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GNE, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN, VCP
Methodology:
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
Shipment Sensitivity Requirements:
References:
- GeneReviews: Limb-Girdle Muscular Dystrophy Overview http://www.ncbi.nlm.nih.gov/books/NBK1408/
Additional Info: