The Neuromuscular Disorders Panel includes testing for nemaline myopathy, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, Zellweger syndrome spectrum, and cardiomyopathies. Individual disorders included on this panel are myoadenylate deaminase deficiency, erythrocyte AMP deaminase deficiency, myofibrillar myopathy, Duchenne/Becker muscular dystrophy, congenital disorder of glycosylation type 1a, malignant hyperthermia susceptibility, myoclonus dystonia, Marinesco-Sjogren syndrome, and distal arthrogryposis.
- Laing (2012). Crit Rev Cl Lab Sci, 49:33-48.
- Confirmation of a clinical diagnosis of neuromuscular disorders.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Single-gene testing is available for most genes on this panel.
- Limb-Girdle Muscular Dystrophy: Sequencing Panel.
- Congenital Muscular Dystrophy: Sequencing Panel.
- Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy Panel.
- Expanded Neuromuscular: Sequencing Panel.
- Neuromuscular Disorders: Sequencing Panel.